"The technology of prenatal
diagnosis is usually presented to us as a solution, but it brings with it
problems of its own...the technology of prenatal diagnosis has changed and
continues to change women's experience of pregnancy."

All pregnant women in our technology-happy modern society face
confusing choices about prenatal testing, its advantages and
disadvantages, and its appropriateness for them. Large pregnant
women face even more confusion, since prenatal testing can be
slightly harder in this population, and the results can be more
confusing. However, since they may be at a somewhat increased risk
for problems like neural tube defects, they also face greater
pressure than others to have these prenatal tests, even though
the tests are often difficult to interpret.

This section is an attempt to present an overview of the most
basic prenatal tests most pregnant women in the US are pressured
to have, including Ultrasounds, the AFP/Triple Screen Test,
Gestational Diabetes tests, and under certain conditions,
Amniocentesis. It is further designed to address the special
concerns that large women might have in taking these
tests---their fears, any special equipment that might be helpful,
the controversies over interpretation of results, whether large
women have a higher rate of so-called 'false-positives' on
certain tests and why, etc.

It's important to remember that discussing prenatal tests can
be simple or incredibly complicated, depending on the degree
of detail that is needed and the point under discussion. This FAQ
is NOT intended to be a full explanation of all the intricacies
of taking and interpreting various prenatal tests, but rather a
discussion of them as they pertain to large women instead. A
brief description of the test, its purpose, and the procedures
are given for each, but the majority of the information is about
the specifics of large women and the test. If you need more
detail about statistics, interpretation of results, rates of
'false-positives', etc., then be sure to research the many
websites devoted to prenatal testing online.

It is also important to realize that most women take these
tests without fully considering all of the implications of the test. Most
women think of these as a simple blood test, a cursory part of prenatal
care. They don't consider that intimately wrapped up in the question of
prenatal testing is the moral dilemma of abortion and the thorny issue of
eugenics. Barbara Katz Rothman points out:

The history of
prenatal diagnosis has roots in the eugenics movement...part of its history has
been an attempt to control the gates of life: to decide who is, and who is not,
fit to make a contribution to the gene pool.

Katz Rothman is by
no means arguing against the use of prenatal testing; she actually presents a
number of compelling reasons to consider it. Her writing is a fair
and balanced look at the intricacies and difficulties of this issue. But
she has found through extensive interviewing of parents involved in such testing
that most of them were simply unprepared to confront the scope of the types of
decisions presented by prenatal testing, and that choosing such testing often
changed the way a woman experienced pregnancy in subtle ways.

Parents who are considering using prenatal testing need to be sure they
really understand the following issues BEFORE the test takes
place:

What is being
tested for

What the test measures and how accurate it is

The difference
between a screening test and a diagnostic test

What it means if they get a
non-reassuring screening test result

What their choices would be if they had a
non-reassuring screening test result

What further testing might be available

What kind of possible treatment might be available if a condition did
exist

Whether this information before birth would be an advantage or disadvantage to
them

What they would do with the information once they got it

More
on these kinds of questions is available on other websites about prenatal
testing, but it vitally important that parents think about these issues BEFORE
they decide whether or not to test.

Readers may feel that there is a strong anti-testing bias in
this FAQ. Kmom's own experiences with prenatal testing (detailed below)
have largely been negative, and she is certainly strongly concerned that so many
women enter into these tests without really considering what they are doing
beforehand. Part of the purpose of this FAQ is to help women understand
the scenarios they might face should their screening test come back positive for
possible problems. And because the overall bias of our technological
culture is towards doing more and more testing, she feels an extra
responsibility to challenge the automatic assumption that more testing is
better.

However, by no means is she condemning testing completely, nor
does she criticize those who do choose to test. Prenatal testing has
certain advantages and in some situations can be a great help. And under
certain circumstances, Kmom would choose to use some of it too. She is
simply pointing out that the issue is far more complex than most clinicians
would have patients consider, and that parents need to ask themselves the hard
questions before they begin the process.

Finally, it's also important to note that none of
these tests are mandatory. Although many women are
simply told that they will be taking these tests, it is ALWAYS
your right to decline any or all of these tests. Just because you
are 35 or over, for example, does not mean that you HAVE to have
an amnio, and just because you are a large woman does NOT mean
that you have to have the AFP test or gestational diabetes test.
Conversely, it is also your right to request certain tests if they are important
to you.

You
have the right to accept or decline any test or treatment during
pregnancy. It is YOUR body, and YOU have the ultimate choice.
Research the issues carefully so that you make an informed
choice, and then either request or decline the test, based on
your individual needs and values. Don't let any provider try to
bully you into (or out of) tests---listen to their counsel, do
your own research, and then MAKE YOUR OWN CHOICES.

Amniocentesis is the process of inserting a needle into the
uterus to withdraw some amniotic fluid from around baby for
testing. This amniotic fluid can then be used for testing for certain
conditions or birth defects in the baby.

Complications of amniocentesis can include cramping and
bleeding, amniotic fluid leakage, and miscarriage/fetal death. More unusual complications
include fetal respiratory problems, birth defects, uterine infection, and
rarely, maternal death. Because of these potential problems,
risks and benefits from amniocentesis must be
weighed carefully before making a decision about doing one.

In Kmom's personal opinion, it is wise to be very cautious in deciding
to do an amniocentesis. However, each person must weigh the benefits and
risks of any procedure and decide for themselves what to do. In
certain situations, it can certainly be a useful test to have.

An amniocentesis uses a hollow needle to remove amniotic fluid
from around the baby. This fluid is then cultured, the chromosomes mapped
("karyotyping"), and the fluid tested for various diseases and
problems.

[Chromosomal mapping] allows
the detection of trisomies (extra chromosomes), monosomies (missing
chromosomes), and other structural defects in the chromosomes. Most people
have 46 chromosomes, in 23 pairs, but some have an extra copy of one
chromosome, called a trisomy because there are three of one chromosome pair.
This extra chromosome can lead to a variety of abnormalities. The most common
trisomy is called Down syndrome, a trisomy of chromosome pair 21, and it leads
to mental retardation and various physical problems. Other common trisomies
are trisomies 13 and 18 (which generally cause a baby to die shortly after
birth) and sex chromosome trisomies.

Examining the chromosomes also allows the sex to be
determined, which may be of particular interest to women who are carriers of
sex-linked disorders, such as hemophilia or Duchenne muscular dystrophy.

In addition to examining the fetal cells for chromosome
abnormalities, the amniotic fluid can be tested for levels of [AFP],
acetylcholinesterase (AChe), and hemoglobin F. It is possible to detect neural
tube defects, including anencephaly, spina bifida, and meningomyelocele
(though the use of amniocentesis to detect neural tube defects has been mostly
superceded by a combination of the AFP test and high resolution detailed
ultrasound).

It is also possible to detect about 70 metabolic
disorders. The tests for metabolic disorders, however, are only done if family
history warrants, and will not be done for women being referred for amnio due
to age or results on the AFP test or Down's screen. If there is no history of
genetic disease in the family, a genetic analysis will not be performed, only
a chromosomal analysis. Chromosomal analysis is performed at most large
hospitals and some private labs. Genetic analysis is only performed in a few
labs in the country and is significantly more expensive.

Amniocentesis to diagnose birth defects is usually done
between the 14th and 20th weeks of pregnancy, most commonly at weeks 15-16. Amnios can also occur in
late pregnancy to test the maturity of the baby's lungs if early delivery is
being considered for some medical reason. Occasionally, amniocentesis is
used for other reasons as well.

However, most commonly, amniocentesis is done to check for
birth defects and other problems in the baby. Parents must remember that
it does not detect ALL birth defects, and a "normal" amniocentesis
does not guarantee a "normal" baby. For chromosomal
disorders, it is a very accurate test, but one that is not without potential
risks.

In an amniocentesis, the mother is generally given genetic
counseling first to try and clarify the parents' genetic heritage and any
possible genetic risks. It is a good idea to have researched your family history
as much as you can ahead of time, before the genetic counseling
appointment.

Mothers having an amniocentesis should be sure to get plenty
of fluids in the week or so before the test. Poor maternal hydration can
sometimes decrease the level of amniotic fluid in the uterus, and this in turn
could make getting enough fluid for the test difficult. Good hydration may
help increase the level of amniotic fluid and make it easier to get
enough. In addition, the targeted ultrasound just before the amniocentesis
may be helped by a bit of extra fluid in the bladder. Therefore, it is
probably a good idea to be well-hydrated before the test, but you don't need to
drink excessive amounts.

After genetic counseling, a "level two" ultrasound
is then done to check for any signs of fetal abnormalities, to check the baby's
heartbeat, to determine the position of the baby and of the placenta, to examine
closely the main fetal structures, and to
double check the baby's gestational age. A "level two"
ultrasound does not mean that any special equipment or intensity of ultrasound
is used; it simply means that they take more time to do the ultrasound and are
looking more directly for certain problems. This is often referred to as a
"targeted" ultrasound.

Ultrasound
is used to determine the best location for placing the needle---a pocket of
substantial amniotic fluid well away from the baby and umbilical cord.
When amnios first came into use, they were done "blind" (without
continuous ultrasound guidance during the amnio), and this resulted in a number
of disastrous outcomes, including occasional cases of horrifying fetal damage and death. Modern
amniocentesis is done with continuous ultrasound and is much less dangerous.

Continuous ultrasound during an amnio allows the doctor to see
a constant view of the needle's path and where the baby is located at all
times. If the baby moves near the needle's path at any point, the doctor
can then reposition the needle, or if necessary, withdraw the needle and try
again in a different location. Continuous ultrasound has eliminated a great deal
of the risk formerly associated with amniocentesis, but at times babies still do
get "stuck" by amnio needles. Rarely is it serious, however.

For the amniocentesis, the mother lies flat on her back on a
table. Iodine solution is swabbed onto her belly in order to cleanse the
area thoroughly, and sterile drapes are placed around the area. A local
anesthetic may be used to deaden the area where the needle will go in, but is
often not used since the pain is usually minimal and a local means
administering a second needle insertion. A thin, hollow needle is then
inserted into the abdomen and uterus, using continuous ultrasound to guide the
process.

In mid-second trimester amnios, about 2 tablespoons of
amniotic fluid are removed through the needle; in first-trimester amnios (now
not usually done), a
little less is removed in order to minimize any possible effects on the
baby. The first bit of amniotic fluid is discarded so that the chances of
contamination with the mother's blood or cells is minimized, then the rest of
the fluid is removed. This part of the process only takes a few minutes if
everything goes well.

After the fluid sample is taken, the doctor checks the baby's
heartbeat to be sure all is normal. The fluid sample is then sent off to a
lab to be analyzed. The mother's body is thought to replace the amniotic fluid
within about 12 hours to a few days of the procedure. After the amniocentesis, most doctors recommend taking it easy
for a few hours or a few days. Most tell the mother to avoid lifting heavy objects and prolonged
standing.

Living cells from the fetus exist in the amniotic fluid, and
these cells are grown in a laboratory for one to two weeks. These are then
tested for chromosomal abnormalities and sometimes for various genetic birth defects. Results usually
can take one to three weeks to arrive, although they average about two weeks in
most cases.

The levels of alpha fetoprotein in the amniotic fluid are also
checked for the possibility of neural tube defects. Because this can be
measured directly from the fluid, without any culturing, results of this test
may take only a few days. This test may be even more accurate than the
AFP/triple test that is done from a maternal blood draw but some research
suggests that its use has become outdated and unnecessary.

There is a new method of analysis for amniocentesis that
reveals results faster, but less completely. This is called Fluorescent In
Situ Hybridization, or FISH. According to Mark Perloe at www.ivillagehealth.com,

[FISH] involves using special dyes targeted to specific
chromosomes. Each dye glows a different color under fluorescent
lighting. At present, we can only test for four or five different
chromosome pairs using this technique. Normal cells have 23 pairs of
chromosomes; an abnormal fetus may have an extra chromosome or may be missing
one from a pair. Since we can't test all the chromosome pairs using FISH, this
method only picks up a portion of the potential chromosomal anomalies that may
occur. Luckily, the most common problems are picked up using this
screening method. As results from this test can be available within a
few hours, FISH is gaining in popularity.

Many women worry that an amniocentesis will hurt. Most
literature on amniocentesis tells women that it will not hurt at all, or that it
will only hurt a tiny bit. Dr. Marjorie Greenfield at www.drspock.com
states, "This procedure...hurts only a bit more than getting blood
drawn, and less than getting a shot, or having an IV started."

Actually, women's experiences vary quite a bit. Some
women report that the amnio didn't hurt at all, some women report only a feeling
of significant pressure (especially when the amniotic fluid is being withdrawn),
some women report a feeling of cramping when the needle goes into the uterus,
and still other women report that the amniocentesis was quite painful.

Kmom's Story: My amnio certainly hurt more than
"getting a shot or having
an IV started." Putting the needle into the skin felt about like getting a
shot, not too bad. When the needle pierced the uterus, though, it was definitely
painful, about like a very strong menstrual cramp---painful, but
tolerable.

However, because the baby moved, they had to withdraw the
needle and re-insert it a second time. This time the procedure was
definitely very uncomfortable, probably because I had a contraction during the
insertion and it was difficult to get the needle in. In order to get the fluid
out, the doctor pushed very very hard on me and I felt great pressure as he
tried to withdraw enough fluid for the test. At that point, it was
definitely extremely uncomfortable, even painful, and the atmosphere in the room
was very tense. Eventually they got enough fluid for the test and withdrew the
needle. What a relief when it was finally gone!

My amnio experience did cause me significant
discomfort/pain,
much more than "getting a shot" or "getting blood
drawn." However, I also know
women who have said that the procedure did not hurt at all. In all
likelihood, the experience varies according to the skill of the doctor and the
circumstances of the amnio. The fact that I had a Braxton-Hicks
contraction during the amnio probably was a significant part of why my
experience was painful.

Most
doctors also probably underestimate the amount of discomfort involved in an
amnio. Even so,
usually the procedure is not as painful as most women anticipate it will be, and
many women report that the experience was only mildly uncomfortable. However,
each woman's experience is different and depends on a number of different
variables.

After an amnio, most women experience at least some degree of
cramping. Most doctors recommend resting until the cramping has subsided,
and taking it easier than usual for the next few days. Avoid heavy lifting during this time, even if you are feeling well and have had
no spotting or cramping. Within a week or so, you should feel back to
normal or very close.

Most of the time, amniocentesis goes quite smoothly. But
some of the time, amnios can become more difficult, or may encounter significant
problems during the procedure.

Several factors may be more predictive of a difficult amnio
procedure. These include uterine fibroids, low amniotic
fluid levels, a retroverted uterus, maternal obesity, and past history of vaginal bleeding in the
pregnancy (Johnson 1999). However, many people with these situations
have had an amnio without problems, so these factors do not always signify that
there will be problems.

Sometimes more than one needle insertion must be used. If the
baby moves near where the needle is going in, the needle may have to be pulled
out and reinserted in a different spot. Or the spot they selected may not
be turn out to be very good and they must try again.

Sometimes the doctor has
difficulty getting the needle in, especially if the mother has a Braxton-Hicks
contraction before or during the procedure [as happened to Kmom, see above]. Sometimes a problem
known as amniotic membrane "tenting" occurs, where the membranes resist
penetration by the needle and are pushed back but not penetrated by the needle. This may be more associated with fetuses with
chromosomal abnormalities like Down Syndrome, but also is more common in earlier
amniocentesis procedures (Johnson 1999).

Sometimes a "bloody tap" occurs, where blood is
found in the amniotic fluid. This blood may be from the needle insertion
in the mother, it may occur because the placenta was encountered, or it may come
from the fetus. Blood-stained amniotic fluid is generally associated with
more complicated and problematic amnios, but by itself is not a cause for
immediate alarm. In other words, problem amnios have bloody taps
associated with them more often, but a bloody tap alone does not necessarily
mean there will be problems.

Every needle insertion raises the risk for problems so it is
best to avoid multiple insertions whenever possible. Most
doctors will only do two needle insertions in one amnio session; if they cannot
get good results in two insertions, they will often tell mothers to come back
and try again in a week or so. If the first needle insertion goes badly,
mothers may want to consider whether to continue the amnio at all. Certainly if
success does not come after two needle insertions, the amnio should probably be abandoned
that day and, if desired, tried again later.

Sometimes the doctor seems to complete the amnio just fine
but later finds out he did not get enough fluid, or the fluid is contaminated by
blood or maternal cells. In this case, the mother will be called to come
back for a repeat amniocentesis. Another possible problem occurs when lab
workers are unable to culture enough cells from the amniotic fluid to do
karyotyping. This would also necessitate a second amnio.

Needing a repeat amnio because of culture failure
is thought to occur about 2%-6% of the time in second trimester amnios, and up
to 18% of the time in first-trimester amnios. Sometimes culture failure is more common with certain fetal abnormalities, but
most of the time the baby is normal and the lab just needs more amniotic fluid
with fresh fetal cells.

Repeat amniocentesis happens more often than people think.
Barbara Katz Rothman, author of The Tentative Pregnancy: How Amniocentesis
Changes the Experience of Motherhood, found that 10% of the women having
amnios that she interviewed ended up having more than one amniocentesis. The
medical literature reflects smaller numbers (especially for second trimester
amnios), but even so, the numbers are still significant. The possibility for needing a repeat amnio is one of the risks of
amnios that women are rarely adequately informed about.

Again, remember that at any point, you can decide not to
continue with amniocentesis. If problems are encountered during the amnio or a
repeat amnio is needed, some women choose to just stop the process altogether,
or to stop it and wait a while before trying again. The decision is ALWAYS
up to you----it is your body and your baby. You have the ultimate power to
decide whether or not to continue.

According to the March of Dimes, about 1-2% of women
experience cramping, spotting/bleeding, or leakage of amniotic fluid after an
amniocentesis. Anecdotally, the rates seem higher when talking to women
who have been through amnios.

Most women report some feelings of cramping after an amnio,
though the cramps are usually mild. Spotting is more unusual but does still
happen to some women. Leakage of amniotic fluid seems more rare,
anecdotally, but it may not be easy to spot this if you are already
bleeding.

Be sure to call your doctor if you have any concerns. According to various amniocentesis resources, you should
contact your healthcare provider if you experience any of the following after an
amniocentesis:

Any significant loss of fluid from the vagina

Nausea and vomiting

Significant cramping or pain in the lower abdomen or
shoulder

Bleeding from the vagina or puncture site

Signs of infection like headache, muscle aches, chills,
dizziness, fever, or a general ill feeling

If you notice a reduction in fetal activity levels

If redness or swelling develop at the puncture site

It is better to err on the side of caution. If you
experience any problems after an amniocentesis, call your doctors right
away and keep them informed. They can track your symptoms and advise you
what to do. Don't worry about "bothering" them or think that
your symptoms are too trivial to mention. Doctors need to stay fully
informed of your condition so they can assess how you are doing and what to do
about any problems.

If you are feeling very ill or have symptoms of an infection, don't hesitate to go to the
Emergency Room immediately and get checked. Be sure to let them know you had an
amniocentesis. If you show any signs of infection, you or your partner may
need to get assertive in order to get them to take the possibility of infection
seriously. Although
medical personnel may discount the possibility because it is rare, infection is
a major risk of amniocentesis, and one that can kill (and has). Be assertive about
getting treatment if you suspect you may have an infection.

Although miscarriage after an amnio is thought to be most
common shortly after the procedure, some research indicates that it can still happen even
6-7 weeks after the procedure. If you do experience problems, even weeks
after an amnio, be sure to mention to your health care providers that you
recently had an amniocentesis done.

Amniocentesis is most commonly done in the middle of the
second trimester at about 15-18 weeks, most commonly at about week 15-16. However, the 2 week delay in
getting the results means that if there is a problem and the couple decides to
terminate the pregnancy, a late abortion must be done. The later the
abortion, the harder the procedure is physically, and the closer to viability
the fetus is (which is harder on the parents emotionally as well).

Because of this, researchers have experimented with other
types of prenatal testing that can be done in the first trimester. An
abortion at that stage is physically easier, and most researchers assume that it
is emotionally easier as well (this is debatable). So there has been a
great deal of interest in amniocentesis at earlier stages of pregnancy, as well
as another type of prenatal testing called Chorionic Villus Sampling
(CVS).

However, at this time, mid-second trimester amniocentesis
remains the diagnostic procedure of choice for most clinicians. It is
associated with less risk for miscarriage and less risk for complications than
first-trimester procedures. If the mother feels it is very important to
have a first-trimester procedure done, current research supports choosing Chorionic
Villus Sampling over Early Amniocentesis.

Mid-trimester amniocentesis is done in the second trimester,
usually between 15-18 weeks. Although some resources consider amnios at 14
weeks to be second trimester procedures, research shows that they are probably
still associated with increased risks like first-trimester amnios.
Therefore, many resources recommend that amniocentesis not be performed until at
least 15 gestational weeks.

Because amnios are done with the presumption that abortion
will be chosen if a birth defect is found, they are usually not done after about
19-20 weeks. This is because after the turn-around time for
culturing and testing cells (about 2-3 weeks), the fetus is close to viability
(the ability to survive outside the womb, which now occurs at about 24-25
weeks). Thus the optimal time for doing an
amniocentesis is considered to be 15-16 weeks, with up to 18 weeks considered
acceptable.

Second trimester amniocentesis has been studied fairly
extensively, and long-term follow-up studies have shown that, as a group,
children exposed to second-trimester amniocentesis are not substantially more at risk for more
long-term complications than children not exposed to amniocentesis. Amnios
still have risks, of course, but the risks seem to be shorter-term risks than
longer-term.

Early amniocentesis is done in the first trimester, between
11-14 weeks. Some resources consider 14 weeks to be part of
the first trimester and thus technically an Early Amniocentesis, while others consider it to be
part of the second trimester and a traditional amniocentesis.

Early amniocentesis was studied in a large randomized controlled
trial in Canada (CEMAT group, Lancet, 1998). It was found to be associated with
THREE times the rate of
miscarriage compared to later amniocentesis. This same study found a
striking ten-fold increased risk of club foot (talipes) with early amniocentesis
as well.

Early amniocentesis is probably also associated with fetal
respiratory problems. The theory is that because there is a smaller
amount of amniotic fluid present this early in pregnancy, a removal of even a
small amount can negatively impact the fetus' lung development more strongly than later in
pregnancy. Some research has shown that early amniocentesis that
takes less amniotic fluid has less of a negative impact of fetal respiratory
status, but even so, the rates of respiratory problems are still far greater
than those encountered with second-trimester amniocentesis.

Because of the increased rate of miscarriage, clubfoot, and
respiratory problems, Early Amniocentesis has largely been discredited for prenatal
testing at this time.

Until recently, one of the burning debates in prenatal
diagnosis circles was whether Chorionic Villus Sampling or Early Amniocentesis
was the better choice for prenatal diagnosis in the first trimester.

Chorionic Villus Sampling can be done earlier in pregnancy
than mid-trimester amniocentesis or early amniocentesis. Although it has been done earlier,
CVS is
usually done at about 10-12 weeks of pregnancy in order to minimize the risk of
limb deformities that were found in studies of CVS done at <10
weeks.

Early Amniocentesis is usually done between 11-13 weeks, and
of course Midtrimester Amniocentesis is usually done at about 15-16 weeks
gestation. So CVS does offer a slight time advantage over the two
amniocentesis procedures.

The disadvantage of CVS is that it carries a higher
risk of miscarriage than second trimester amniocentesis. It also carries a
higher rate of culture failure than amniocentesis, meaning that more repeat CVS tests must be done.
In addition, CVS cannot test for
neural tube defects, so if detecting this is important to women, either the
AFP/triple test or a second-trimester amniocentesis must also be done, even
after the CVS test is completed. Furthermore, CVS may miss abnormal chromosome
karyotypes in about 1% of cases, resulting in a 'false negative'
diagnosis.

Another disadvantage of CVS is that sometimes a reported
chromosomal abnormality is restricted to the chorionic villi only and is not
actually found in the baby. CVS samples chorionic villi and predicts fetal
defects based on this placental material, but some chromosomal mosaicism is
confined to the placenta only. Thus the possibility exists that a baby may be
diagnosed with birth defects and aborted when actually the abnormality is found only in the
placenta.

The biggest advantage of CVS is that it is done earlier in
pregnancy, when terminating a pregnancy is easier physically and perhaps
mentally. Dr. Marjorie Greenfield of www.drspock.com
reports that CVS "is particularly useful in cases where there is a high
likelihood of finding a genetic problem, such as in couples who both carry a
serious recessive genetic trait, giving their baby a 25% chance of being
affected."

Despite the potential problems of CVS, the risk for fetal
loss, clubfoot, and other problems is greater in the Early Amniocentesis
group. At this time, if a first-trimester procedure is desired, CVS is the
procedure of choice.

However, if the choice is between first trimester
CVS, first trimester Early Amniocentesis, and Second Trimester Amniocentesis,
the risks are clearly lowest with Second Trimester Amniocentesis. Authorities
agree that between these three choices, Second Trimester Amniocentesis is the
invasive prenatal test of choice (Jauniaux 2000, Alfirevic 2000).

If you are at high risk for a chromosomal or genetic disorder
and/or you are sure you would choose abortion if a birth defect is found,
then CVS may be the best prenatal test for you because the abortion could be
done earlier, when it is less dangerous to the mother, and before the pregnancy
is obvious to others. Otherwise, the prenatal test of choice is probably Second
Trimester Amniocentesis.

And of course, many women choose no prenatal
testing at all, or limit their prenatal testing to ultrasounds. Prenatal
testing is never mandatory.

There are many reasons for doing amniocentesis, but the most
common reason is to check for fetal birth defects. Other reasons can include
checking fetal lung maturity near term, and occasionally in late pregnancy to
assess anemia in babies with Rh disease. Occasionally, amnios are
used to treat polyhydramnios (excess amniotic fluid), or to check for uterine
infections.

The cells in the fluid are largely from the amniotic
membrane (called "amniocytes") and some fetal skin cells.
Since they are not actively growing, they need to be cultured and stimulated
to grow which takes about 7-14 days. After that, the cells are
"harvested" and treated to make the chromosomes visible in their
expanded form. The cells are then broken to release the chromosomes
which are stained with various techniques for visualization of the
"bands" on each chromosome and to allow identification. The
chromosomes are counted and matched up in 23 pairs, and then examined for
evidence of missing pieces or extra pieces.

What are the most common birth defects that an amnio can
detect? Virtually all chromosomal defects can be detected with
amniocentesis. Many (but not all) genetic disorders can also be detected
using amniocentesis. In addition, some types of developmental fetal malformations (such
as neural tube defects or abdominal wall defects) can be detected through analyzing amniotic
fluid, as can certain biochemical disorders.

Down syndrome is the most common chromosomal problem people
use amniocentesis to detect. In Down syndrome (trisomy 21), there is a combination of
physical and mental abnormalities caused by the presence of an extra 21st chromosome. According to the March of Dimes, "Down syndrome
occurs in approximately one in 1250 children born to women in their 20s.
The chances increase to one in 400 by age 35, and one in 100 at age 40."
Other syndromes amniocentesis can check for include trisomy 13, 18, etc.,
plus Turner and Cri du Chat syndromes.

Although taking the test is certainly not mandatory by any
means, amnios are most commonly offered to the following groups:

Older Women - The risk for chromosomal birth defects
increases as a woman ages. Because the numerical risk at age 35 is
approximately equal to the increased risk for miscarriage with amnios, most
women age 35 and over are offered the choice to have amniocentesis

Women Who Have Had a Previous Pregnancy with a Birth
Defect - Couples who have already had a pregnancy diagnosed with a birth
defect are usually offered amniocentesis in subsequent pregnancies

Family History of Birth Defects - Couples who have a
history of birth defects in their extended families may also be offered
amniocentesis

Non-Reassuring Screening Test Results -
If a woman has had a prenatal screening test (such as the AFP/triple test or
ultrasound) suggestive of problems, she is usually offered
amniocentesis as well.

Mother Who Is a Carrier of X-Linked Disease - If the
mother is a carrier for an X-linked disease like hemophilia or Duchenne
Muscular Dystrophy, she is usually offered amniocentesis

Parents Who Are Known Carriers of Recessive Disorders
- If both parents are known to be carriers of certain autosomal recessively
inherited disorders (like Tay-Sachs disease, Sickle Cell trait, etc.),
amniocentesis is offered

Women Taking Certain Anti-Seizure Medications - Women
taking valproic acid (Depakote) or carbamazipine (Tegretol) for seizure disorders may be at an increased risk for spina bifida and these mothers may be
offered amniocentesis

Mother with Rh Sensitization - If the mother is Rh
negative and has hemolytic disease, amniocentesis is offered to check the
baby's status

The most common reason an amnio is done is maternal age of 35
or over. However, amniocentesis is by no means required in this group, and in
fact although the risk for birth defects increases as a woman ages, a woman is
still much more likely to have a 'normal' baby even well into her
40s.

Some research suggests that women with high AFP results may be
at increased risk for miscarriage if an amniocentesis is performed to look for
Neural Tube Defects. The Clinical Guidelines of the Royal College of
Obstetricians and Gynecologists suggests that "Detailed ultrasound,
rather than amniocentesis, should be offered first for the diagnosis of neural
tube defect wherever possible."

Of course, if you are younger than 35 but greatly concerned
about the possibility of birth defects (even without the presence of family
history or prior birth defect), you can always request to have an
amnio. Nearly all doctors and prenatal diagnosis centers will consent to
an amnio in a woman younger than 35 if she requests one to detect birth
defects. Insurance doesn't always cover the cost, but increasingly, more
insurance companies are agreeing to pay for amniocentesis even in women at low
risk for birth defects if they request testing.

Checking for birth defects is not the only reason amnios are
done. Sometimes an amnio is done near the end of pregnancy to see if the baby's lungs are ready for baby to start breathing on its
own after delivery. If your health provider is considering an
early delivery for you because of pre-eclampsia, gestational
diabetes, or other medical considerations, an amnio may be recommended to
determine lung readiness before early induction or an elective cesarean.

An amnio to check for fetal lung maturity is generally a
fairly easy procedure. It does not carry the risk that Early Amniocentesis
and Second Trimester Amniocentesis carries. Because the uterus is bigger
and closer to the surface, it is technically much easier to perform and
reportedly more comfortable for the mother as well.

When checking for fetal lung maturity near term, the amounts
of phosphatidyl glycerol (PG) is checked as well the Lecithin/Sphingomyelin ratio (L/S ratio). Although some doctors only
order L/S ratios, fetal lung maturity is measured more accurately if PG levels
are included as well. Be sure to request BOTH be measured if
you have an amnio for fetal lung maturity.

Keep in mind that like all tests, sometimes amnios have
"false positive" results (tests indicate there might be a problem when
there isn't). In particular, blood or meconium in the amniotic
fluid can produce a false L/S ratio. If you are having an amnio to
check fetal lung maturity, ask the doctor to be sure that no blood or meconium
seems to be in the fluid.

One common question is whether fetal lung maturity amnios are
necessary after 37 weeks. It is standard practice to order an amnio to
check lung maturity if delivery is contemplated before 37-38 weeks, and
generally regarded as unnecessary after 39 weeks. However, in between is a
gray area of 37-38 weeks. Research and medical standards suggest that
an amnio for fetal lung maturity should be done if elective delivery (especially
by cesarean) is done before 39 weeks.

Currently, most doctors will schedule an amnio to check fetal
lung maturity if delivery is contemplated at 37 weeks, and this is an important
step in preventing respiratory problems in this group. However, research shows
that sometimes an amnio to confirm fetal lung maturity is skipped even at 37
weeks. This clearly leads to a significant number of preventable cases of
Respiratory Distress Syndrome, which can be very serious.

At 38
weeks, many doctors do not "bother" with an amnio to check lung
maturity, considering it unnecessary at that point. Yet research is
clear that a number of cases of respiratory problems do occur then and could be avoided if doctors
were more careful to check lung maturity well into week 38.

This is especially important for babies born by elective
cesarean. These babies are at much greater risk for significant
respiratory distress because they do not have the benefit of labor to help them
prepare for breathing outside the womb. A relatively high rate of babies
born by elective cesarean experience some degree of respiratory problems, and
the rate is particularly high in babies taken at 37 and 38 weeks. At
times, these respiratory problems can be very serious.

Research clearly shows that Respiratory Distress Syndrome
rarely occurs after 39 weeks but is common at 37 weeks and somewhat common at 38
weeks. Therefore, most official OB guidelines strongly suggest that
elective cesareans be delayed until 39 weeks OR until fetal lung maturity has
been established by amniocentesis first. Kmom strongly agrees.

Of the two choices, the better option is to wait until 39 weeks if
possible. Babies born by elective cesareans at 39 or 40 weeks do MUCH better
in many ways than if born earlier. Waiting an extra week or so can make a LOT of
difference in blood sugar stability, jaundice, ability to breastfeed,
and readiness to breathe easily. Although the medical trend currently is
to do an elective cesarean at 38 weeks, Kmom strongly believes that waiting
until 39 weeks is a better option in the majority of cases, and waiting until 40
weeks is even better.

If medical circumstances dictate that you must deliver earlier
than 39 weeks, consider an amniocentesis first to be sure the baby's lungs are
ready. Although most babies born at 37-38 weeks do okay, research clearly
supports that many serious cases of respiratory distress at that age can be
prevented by documenting lung maturity with an amnio.

If your doctor recommends early delivery by induction or
elective cesarean, be sure to question closely
the necessity of such a decision.
Early delivery can be lifesaving and very appropriate in
many cases, but some elective early deliveries are definitely questionable. Get a second opinion whenever possible. Don't
forget also that fetal dating is not always accurate, and babies thought to be
38 weeks may well be younger. If in doubt about a baby's age because of
longer menstrual cycles or questionable ultrasound dating, be sure to check
for fetal lung maturity before delivery.

In other words, if you feel confident
that early delivery is necessary, proceed-----but strongly consider an amnio to check
the baby's lung maturity if the baby is not yet 39 weeks or if you are unsure of
the baby's true gestational age.

Amnios can be used to assess the severity of fetal anemia if a
baby has developed Rh disease. Rh negative mothers who have had an Rh
positive baby in the past can sometimes develop antibodies in the blood. These
antibodies may then attack the red blood cells of a subsequent Rh positive baby
(hemolysis), harming it or even killing it. In addition,
there are other, more rare antibodies (Kell, Kidd, Duffy and others) than can develop as well;
these act similarly
to Rh disease and may cause hemolysis.

Nowadays Rh disease can usually be prevented by the use of immunoglobins (i.e.
Rhogam), but in the
past sensitization was more common. In some cases, if the mother had
developed antibodies, the baby of a new pregnancy could be affected severely. Amniocentesis
and cordocentesis (testing the baby's blood from the umbilical cord)
could be used to detect the level of anemia in the
baby near term, and help the doctor decide whether to deliver early and whether the baby might need a
blood transfusion and/or early delivery to save its life.

Some resources report that if blood type incompatibilities or
sensitizations are suspected, amniocentesis is usually done between 18 and 22
weeks to monitor the severity of the problem and to check on the baby's
health. After that, repeated amnios may be needed to see how much an
affected fetus has been impacted by sensitization, and to evaluate whether a
blood transfusion or early delivery is needed.

However, amniocentesis is not absolutely required simply
because a mother tests positive for antibodies. Not all patients who test
positive for antibodies for Rh or other factors develop hemolytic disease; many
of these babies are born without problems at term. As a result, some
doctors are willing to do serial antibody titers (to see if the antibody levels
is increasing, indicating the baby may be being compromised) and/or serial
ultrasounds (to check on baby's health status) instead of automatic multiple
amnios. An amnio would only then be used should the antibody titer and/or
ultrasound indicate the development of a problem.

Rh disease is so preventable nowadays (and other antibody
sensitizations are so rare) that it is unusual for amniocentesis to be used for
Rh/Hemolytic Disease monitoring today. If the mother tests positive for Rh
or other antibodies, other less invasive tests can be used before resorting to
serial amniocentesis. However, should hemolytic disease begin to occur because
of antibody issues, amniocentesis can be a valuable tool in monitoring the
progress and health of the baby.

Amniocentesis can be used for other reasons beyond detecting
birth defects, checking fetal lung maturity, and monitoring Rh Disease. However, these uses are not
common these days, and the chances of any one mother needing an amnio for these
problems is quite small.

The March of Dimes reports that amniocentesis can be used
to diagnose massive uterine infections. If the mother's bag of waters has
ruptured prematurely, sometimes an amnio is done to check for such
infections.

Another use of amniocentesis in the past was in pregnancies
with too much amniotic fluid (Polyhydramnios). If the levels of amniotic
fluid were really excessive, an amnio could be used to draw off some of the
extra fluid as needed.

However, although sometimes there are other uses, most of the
time amniocentesis is used for detecting birth defects etc. in the
baby, and occasionally for testing fetal lung maturity near the end of pregnancy
if early delivery is being contemplated.

Amniocentesis is not without risks. Bleeding and
cramping, miscarriage, amniotic fluid leakage, fetal respiratory problems,
increased admissions to the Neonatal Intensive Care Unit, uterine infection,
clubfoot, etc. are all listed in various resources as potential risks of
amniocentesis.

Cramping is very common after amniocentesis, although it is
usually quite mild in most cases. A smaller percentage of women experience
more significant cramping. Bleeding occurs 2-3% of the time and is usually
resolves without problems, but is associated with a somewhat higher rate of
fetal loss.

The risk
for miscarriage increases after an amniocentesis, although how much depends on
which resource you read. It is generally thought to increase between 0.5% and
1.0%, depending on the skill of the provider and various other maternal risk
factors.

Amniotic fluid leakage is not uncommon after an amniocentesis.
Although most of the time the uterus "seals" itself and replenishes
any lost fluid, sometimes fluid loss is of concern and may be connected to
increased rates of respiratory problems later on.

Some research has found an
increased risk for long-term respiratory difficulties in the baby after
amniocentesis, and perhaps increased admissions to Neonatal Intensive Care Units
due to prematurity or breathing problems.

Uterine infection is also a possible risk. Although rare
nowadays, it does occasionally result in the loss of a baby or mother, as
happened recently in England (see below).

Early amniocentesis has been reported to result
in higher rates of birth defects such as Clubfoot (Talipes Equinovarus). Because
early amnios have also been associated with a higher rate of fetal loss, they
have largely been discredited as a viable prenatal testing technique at this
time.

Some resources state that amniocentesis is more risky in women
who have had previous abdominal surgery, previous infection in pelvic organs, or
in women who are obese, although they provide no references to back up that
assertion.

However, potential risks of amniocentesis must be kept in
perspective. Several studies have compared babies who underwent
second-trimester amniocentesis with babies who were not exposed to
second-trimester amniocentesis, and by and large, these studies have not found
any differences between groups (see Finegan 1985, 1990, 1996). One limit
of these studies is their small size; they may not be large enough to detect
rarer problems. However, larger studies have detected no differences
between groups either (Baird, 1994), with the exception of ABO isoimmunization.

So while amniocentesis does have some increased risks (most
notably miscarriage), for the
most part second-trimester amniocentesis is not a highly risky procedure.
Early Amniocentesis, on the other hand, has been shown to be much more risky and
should be avoided.

Most women experience some degree of cramping after an
amniocentesis, usually mild and of no long-term significance. However, any
cramping should be reported to your doctor, especially if the cramping is
accompanied by any bleeding or amniotic fluid loss.

Some resources report that 2-3% of women who have had
amniocentesis will experience some degree of vaginal bleeding afterwards. This
is thought to be "self-limiting" in most cases but because it can be
associated with miscarriage after amnios, it should always be reported to
the doctor.

Bleeding may not always occur right away. Sometimes it shows
up after several days have passed. Sometimes, women are feeling fine and
begin to resume their lives too early or do some heavy lifting, and then
she experiences bleeding (as happened to Kmom). This is why it is important to take it easy for
a while after an amnio, and especially to avoid heavy lifting for a few days afterwards.

Does amniocentesis increase the risk for miscarriage?
Although some sources dispute this, most sources state that there is a small
increase in the risk of fetal loss after an amnio. However, miscarriages
often occur in pregnancy, even at 16 weeks or more. How can we determine
what losses would occur anyhow and what losses may be directly related to
amniocentesis? This is a difficult question to answer.

Because some miscarriages would occur anyhow, regardless of whether or not an
amnio is done, amnio resources refer to the "excess" risk for
miscarriage/fetal loss associated with amniocentesis---that is, the amount that
miscarriage rates after amnios are raised above normal background miscarriage levels in
women not having amnios.

The estimates for "excess" risk for miscarriage due
to amniocentesis vary greatly. Some authorities insist there is no
increased risk for miscarriage, while others assert the risk is much higher than
generally acknowledged. Probably one reason for the confusion is that
studies often have different time protocols. Some only consider amnio to
be relevant if a miscarriage occurs within a few days of the amnio, some within
2 weeks of the amnio, while some contend that miscarriage can occur up to 6-7
weeks after an amnio and still be related to the amnio. Thus,
"excess" miscarriage risk varies from study to study.

Most resources state that the risk for
miscarriage increases somewhere between 0.5% to 1% after a second-trimester
amnio. If
the risk is 0.5%, that means about 1 in 200 pregnancies miscarries due to
amniocentesis (that would not have miscarried otherwise). If the risk is 1.0%, that means the risk is 1 in
100. On the other hand, of course, it also means that 99.0 - 99.5%
of pregnancies do not miscarry after amniocentesis. With first-trimester
amniocentesis, the "excess" risk for miscarriage is even higher,
generally thought to be between 2-5%.

The cause of the miscarriage may be an infection
developing in the uterus, or the waters breaking and starting the uterus to
contract, or excessive bleeding. Sometimes the cause is unknown, and sometimes
the baby that is miscarried is found to have a genetic disorder, and it is
felt the miscarriage may have happened anyway.

Many factors are thought to influence the risk for miscarriage
after amniocentesis. For example, the miscarriage rate depends greatly on the skill of the
provider. Generally speaking, the more skilled and experienced the doctor,
the lower the miscarriage rate. Inexperienced doctors tend to have the
highest rates of miscarriage.

If you do choose to have an amnio, therefore, schedule
your amnio at a center that specializes in amnios, and with a doctor that
has done a lot of them in the past, and that does a lot of them on a regular
basis each year. Be sure to ask that doctor the rate of loss in that
institution, his own personal rate of loss, how experienced he is, and how many
amnios he does per year.

If you are plus-sized, you may also want to request a doctor
who has had a lot of experience in doing amnios in women of size, since
amniocentesis may be more risky and difficult technically in obese women.
Look for one who is size-friendly and will not berate you for your size, but
will be upfront with you about possible risks and concerns.

There are other factors that tend to predispose to fetal loss
besides doctor inexperience and skill. These vary from study to study but
may include:

A large number of needle insertions (multiple tries) or a
"difficult" procedure

Vaginal bleeding after the amnio

Amniotic fluid leakage after the amnio

Prior bleeding in the present pregnancy

Brown or
green stained amniotic fluid

A "bloody tap" (blood in the amniotic fluid)

Increasing gravidity (higher number of pregnancies,
especially 6 or more)

Advanced maternal age (over 40 years)

Prior maternal history of 3+ abortions in the first
trimester

Prior maternal history of a second trimester miscarriage or
abortion

Possibly raised maternal AFP levels

Possibly a maternal history of multiple miscarriages

Possibly using a needle greater than 18 gauge

Possibly maternal history of hypertension prior to the
pregnancy

Possibly placental perforation (earlier data supported this
as a risk factor, later data does not)

Unfortunately, many women report that none of these factors
were discussed with them when making the decision about amniocentesis. For
example, Kmom had a history of prior bleeding in her first pregnancy before her
amniocentesis, but was NOT told that this might increase the risk of
miscarriage. Nor was she told that the difficult procedure that she
endured and the multiple needle insertions might increase her risk for fetal
loss either. Only later, when the bleeding and cramping subsided and her
karyotyping came back "normal," did her genetic counselor share that
he had been really concerned about fetal loss for her.

Fetal loss after amniocentesis is a subject many doctors like
to avoid, or dismiss with a short speech on the potential risks. When it
occurs, avoidance of acknowledging your loss may be strong. Many
women have found that the culture of denial is very strong in the medical
community, especially when obstetrical intervention results in damage or death
to the baby. Barbara Katz Rothman relates the story of a woman OB who
experienced a miscarriage after an amniocentesis and the emotional roadblocks
she received from other doctors afterwards. She was devastated and angered
by the lack of support she encountered and the downright denial of any problem
by her fellow doctors.

If you experience a miscarriage after an amniocentesis, be
sure to get special counseling and support from people who will understand and
listen non-judgmentally to your situation. Keep in mind that this support
may not be from the medical community.

Some sources list the rate of amniotic fluid leakage after
amniocentesis as approximately 1-2%. Most of the time, the fluid loss is
fairly minimal. Because the body is constantly making and replacing
amniotic fluid, lost fluid is thought to be replaced within twelve hours to a
few days of the procedure.

Amniotic fluid leakage is more common among women having
earlier amnios. Some research suggests it may also be more common in women
who had prior vaginal bleeding in the pregnancy, in women who have already had a
number of babies, and in heavier women.

Amniotic fluid leakage can be an early sign that the baby is
going to miscarry. Most women who experience amniotic fluid leakage do NOT
end up miscarrying, but it is a potential sign of it. Be sure to notify
your healthcare provider if you experience any leakage after an amnio, and take
it as easy as possible in the meantime. In all likelihood, the leak will
seal over and all will be well, but it is better to be careful in the meantime.

If amniotic fluid leakage continues over time without a
miscarriage, there is more
concern for prematurity, low birth weight babies, orthopedic problems, and respiratory
compromise. Babies need their amniotic fluid. If you have
continuing fluid leakage, be sure to discuss the issue carefully with your
doctor.

Because people carry many germs, there is a small but
real risk that the amnio needle could become contaminated with germs from the
mother's skin, from the skin or gloves of the doctor doing the amnio,
or from germs inside the mother's body. These germs could then be transmitted
down into the mother's uterus, where they could infect the amniotic fluid and
the baby.

The March of Dimes reports that the risk for uterine infection
after amniocentesis is very small, on the order of less than 1 in 1000.
However, uterine infection can also cause miscarriage and even deadly sepsis in the
mother, so while the risk of
infection is small, it is potentially very serious.

A recent British news report confirms this rare but serious
risk. A British woman underwent an amniocentesis in May 2000. Her
uterus
was infected with deadly E. Coli bacteria during the amniocentesis, she went into
septic shock, began miscarrying her baby, and died of a heart attack caused by
septic shock from the amnio. Both the mother and the baby were
lost.

A gynecological expert speculated that it was likely that the
amnio needle had accidentally perforated her bowel during the procedure and that
this was the source of the E. Coli bacteria that infected her, although he could
not be sure. The amnio doctor reported he had tried to do the amnio twice,
but that there was an "unusually small" amount of amniotic fluid and
one of the fluid samples was blood-stained.

At that point he stopped the amnio and told the woman to
return in 5 days for a check-up. She returned to the hospital within 3
hours with cramps/labor pains, but they did no blood tests on her and sent her
away with acetaminophen. Within a day she was readmitted with
vomiting and septic shock. She suffered a heart attack the next day, and
died within minutes of the beginning of surgery. The coroner
confirmed her heart attack and death were direct results of septic shock from
the amnio.

It's important to understand that, while horrifying, this
story represents a very rare risk of amniocentesis. The British news
report emphasized that this mother was only the second person to die after
contracting an E. Coli infection this way. The story may also illustrate
that amniocentesis is more risky when the procedure is difficult, requires more
than one try, or when a sample comes back blood-stained. Or it may simply
be one of those rare risks that cannot be avoided completely.

In order to lower the risk for uterine infection, the mother's
belly should be swabbed with iodine solution thoroughly before the procedure.
Medical personnel are also supposed to wash their hands thoroughly and glove up
before the procedure as well. If the amnio seems especially difficult
or requires more than one try, you might want to reconsider whether to continue
with the amnio at that time.

Although the risk for infection with an amnio is quite small,
be sure every
precaution is taken if you do decide to have an amniocentesis. Also, if you
experience any signs of infection after an amnio (chills, fever, vomiting,
headache, muscle aches, dizziness, or a general ill feeling), be sure to see a
doctor right away and be sure they take the possibility of infection very
seriously.

Several studies have found an increased rate of respiratory
difficulties in babies exposed to amniocentesis. This effect seems
particularly strong in Early Amniocentesis, but also is seen in second trimester
amniocentesis. Researchers theorize that removal of extra amniotic fluid may somehow
impair lung growth during a critical time period of development.

The research about Early Amniocentesis is quite clear that
respiratory functions can be affected. Yuksel (1997) found that:

Procedures performed in the first trimester were
independently associated with a high airways resistance. These results
suggest that invasive procedures performed in the first trimester of pregnancy
have an adverse effect on perinatal lung function.

Thompson (1992) found that both CVS and EA "may
impair antenatal lung growth." Greenough (1997) also found that "First
trimester procedures are associated with increased respiratory morbidity in
very young children."

Although most amnio resources attribute respiratory
difficulties primarily to first-trimester amnios, there is some evidence that
second-trimester amnios may also be associated with respiratory problems.
For example, the website at http://www.birth.com.au/class.asp?class=6602&page=6
states:

Babies who have an amniocentesis have about a 1% increase
in risk of developing breathing problems at birth, called 'respiratory
distress'. Amniotic fluid plays an important part in the development of a baby's
lungs. Respiratory distress can be treated, but requires the baby to be cared
for in the intensive care nursery for several days.

Annapoorna (1996) found that children exposed to second
trimester amniocentesis had an increased incidence of respiratory illness (57%)
compared with controls (30%). This was an unexpected finding, and they
called for further study on the issue.

Milner (1992) studied 39 full-term babies who had been exposed
to second-trimester amniocentesis and also found more lung problems. They
concluded, "This provides further evidence that
mid-trimester amniocentesis does have an adverse effect on lung growth and
development." Enkin et al. also cited studies that showed some
risk for respiratory problems after mid-trimester amnios (see below). On the other hand, not all studies have found evidence of
increased respiratory difficulties after second trimester amniocentesis (Hunter
1987).

So while it is clear that first-trimester amniocentesis probably DOES affect
lung function, the influence of second trimester amnios is less clear.
Probably it is also a risk factor for respiratory problems, especially with
significant or extended amniotic fluid leakage. However, the majority of babies who
are exposed to an amniocentesis in the second trimester will not develop respiratory
problems.

Finegan (1990) did find a higher rate of ear problems
(especially ear infections) in children who had been exposed to amniocentesis as
babies. If amniotic fluid plays a role in inner ear and mid-ear
development, amniotic fluid leakage might indeed result in long-term damage to
the ears. However, little corroborating information can be found for this
risk.

Because of the risk for fetal respiratory problems and
possibly also low-birthweight and prematurity, infants who have been exposed to amniocentesis
may have a slightly higher rate of admissions to the NICU. Sant-Cassia
(1984) and Abboud (2000) found higher rates of prematurity, especially among
babies with more amniotic fluid leakage. Greenough (1997) found a higher
rate of NICU admissions in babies who had been exposed to
amniocentesis.

A controlled trial of genetic amniocentesis in over 4000
women at low risk of an abnormality showed that the procedure was associated
with a high incidence of fetomaternal bleeding, an almost threefold increase
in the miscarriage rate, and, perhaps most noteworthy, a significant increase
in the incidence of babies with very low birthweight and of respiratory
distress syndrome.

Although it
can have a number of far more common causes, clubfoot may also be associated with amniocentesis,
especially Early Amniocentesis. The speculation is that by removing amniotic
fluid during a critical period of fetal development, the baby may not have
enough fluid to suspend it comfortably in utero, and abnormal pressure may be
placed on delicate forming bones and tissues, thus causing a
clubfoot.

Although amniotic fluid is generally replaced within hours to
days after an amnio, in some women it may take longer or the fluid replacement
may not happen adequately because of some unknown factor. In these babies,
orthopedic problems like clubfoot may occur.

According to recent research (Lancet, 1998), the
risk of clubfoot is greatly increased with Early Amniocentesis. In this
study, the risk of clubfoot was increased ten-fold after early amniocentesis
(from 0.1% after second trimester amniocentesis to 1.3% after early
amniocentesis).

Although some research has found a higher rate of clubfoot or
other orthopedic abnormalities even in second trimester amnios, The March of
Dimes states that the risk for clubfoot after second trimester amniocentesis
does not differ from the underlying rate of clubfoot in all US babies.

There is a small chance that the mother can be exposed to
fetal blood or cells in the process of an amniocentesis. In an Rh negative
mother with an Rh positive baby, this may sensitize her to the baby's blood and
cause her to develop antibodies. This will not harm the baby of that
pregnancy, but it may harm a future Rh positive baby.

This problem has been found in some past research but the risk
of Rh sensitization seems small. Still, it is routine nowadays to automatically give Rhogam immunoglobulin
after amniocentesis to Rh negative mothers as a precaution. However, www.mostgene.org/gd/gdvol19e.htm
notes that Rhogam "will not protect women from being sensitized to more
rare antigens such as Kell."

So while Rhogam may be protective against some sensitization
issues, it will not protect against them all. Still, it seems a sensible
precaution in women who are Rh negative (with Rh positive partners) and planning more children. Some
types of Rhogam are available without mercury or other preservatives; if you
plan to have an amnio and will receive Rhogam, you might want to look into the
various types available carefully.

If the placenta is perforated, it is possible that this could
cause a hemorrhage, although recent research seems to indicate that placental
perforation is not as risky as once thought.

If the vessels of the umbilical cord are perforated this can cause fetal hemorrhage, which of course could be very serious.
There are a few (and fortunately rare) case reports of fetal bleeding and even fetal exsanguination (bleeding
out) and death after amniocentesis.

With continuous ultrasound guidance, hemorrhage is very rare nowadays. Still, it
remains a small but potentially serious risk in amniocentesis.

As noted, in the past amnios were done without
continuous ultrasound monitoring. The amnio was either done totally
"blind", or ultrasound was used to note where the baby and placenta
were, then the ultrasound was stopped, and the needle was inserted based on those findings (no continuous
monitoring).

The problem with this is that babies move, especially in
response to maternal stress or pain! Some babies unfortunately moved into the
path of the needle, and were sometimes nicked. Amnios in the 1970s
reported a fetal injury rate of 1-3% (Karp and Hayden, 1977) or even up to 9% (Epley,
1979). Most were "cutaneous" (skin) injuries, but occasionally
more serious damage resulted.

In a few cases, the medical
literature records very serious damage or even death in the fetus from
amniocentesis as it was practiced then. There are reports of ocular
trauma, intestinal atresia, fetal exsanguination, and other horrifying damage to babies.

Once continuous ultrasound monitoring began to be used,
however, the doctor was usually able to compensate for any movement from the
baby. The needle could be repositioned as needed, or if necessary, pulled
out entirely and reinserted in another location. Continuous monitoring significantly
lowered the risk associated with amniocentesis. It has offered great
benefit during amniocentesis, which significantly outweighs any potential risk
associated with prolonged use of the ultrasound. It is definitely a very
necessary part of modern amniocentesis.

However, even continuous ultrasound monitoring cannot
eliminate all risk of fetal damage. Although rare, resources do document
that occasionally, there can still be:

Another possible source of fetal damage from amniocentesis may
be through "Amniotic Band Syndrome." In this, the inner sac of
waters are thought to rupture, and fibrous "strings" of amniotic sac
material drift through the fluid. Usually this is harmless, but sometimes these "strings"
rest against the baby, restraining certain body parts, and over time may even restrict the growth of certain parts of the fetus.

Some babies with Amniotic Band Syndrome are born with scars
and creases in their bodies, parts of their body stunted in growth, or in rare
cases, limbs that have been amputated in utero by these "strings."
One recent case report discussed a case of Amniotic Band Syndrome where the
amniotic band constricted the baby's umbilical cord and the baby died (Strauss
2000).

Although most cases of Amniotic Band Syndrome have nothing to
do with amniocentesis, a few may be associated with it. For example, in
the case report cited above in which the baby died after umbilical cord
restriction, the amniotic band was apparently caused by a second trimester
amniocentesis, and the authors caution that invasive prenatal testing may induce
rare complications like this.

Although fetal trauma from amniocentesis is rare nowadays, it is not a risk that can be
completely eliminated.

Amniocentesis is very good at picking up most chromosomal
birth defects, such as Trisomies (3 chromosomes instead of a pair, such as Down
Syndrome [trisomy 21]), translocations (where part of one chromosome has been
relocated to the 'wrong' place), and other chromosomal problems.

Amniocentesis can also detect many genetic problems as well,
but only if it is looking for them. The LaurusHealth.com FAQ
on amniocentesis states that more than 100 inherited diseases can be detected
through analysis of the amniotic fluid. If you are a carrier for a genetic
disease like Tay-Sachs or Cystic Fibrosis, an amnio analysis will be targeted to
look especially for those diseases. Otherwise, many amniocentesis analyses will
not look specifically for these problems.

Amnios can also detect Neural Tube Defects by testing Alpha Fetoprotein and
Acetylcholinesterase (AChE) levels in amniotic fluid directly. Because it
is a direct measurement (instead of an indirect measurement of fetal AFP levels
in maternal blood), this may be even more accurate than maternal serum
AFP/Triple Testing. Some resources indicate that it is indeed more
accurate----but at a greater risk to the infant. Other resources feel
that AFP measurements from amniotic fluid are an outdated test and should be
dropped.

When looking for specific disorders such as Neural Tube Defects or
Down syndrome, amniocentesis can be a very useful and accurate test. According
to the website, www.stanford.edu/~holbrook/Amniocentesis.html,
if the amniotic fluid AFP is normal and the accompanying ultrasound shows a
normal spine and abdominal wall, "Spina bifida or abdominal wall defects
can be excluded with 99% certainty. Down syndrome is excluded with 99%
certainty as well if the chromosomes are normal."

According to the March of Dimes:

More than 95 percent of the high-risk women who have
prenatal diagnosis receive reassuring news that their unborn babies do not
have the disorders for which they are tested. However, no one prenatal
test can guarantee the birth of a healthy baby, since only some birth defects
can be ruled out before birth. Three to four out of every 100 babies
have a birth defect.

Amniocentesis has an accuracy rate of between 99.4 and
100 percent in diagnosing chromosomal abnormalities.

Of course, not all birth defects are chromosomal.
Amniocentesis will not detect structural or developmental problems like heart
defects, clubfoot, cleft palate, hypospadias, or congenital hip dislocation.
Problems caused by exposure to toxic substances will also not be detected by
amniocentesis.

In addition, because most amnios do not specifically look for
genetic diseases unless specifically ordered to do so, amniocentesis will not
detect most genetic diseases. Most labs can detect chromosomal disorders,
but relatively few are able to do genetic analyses. If you know you
want to have a genetic analysis done, your test will be more expensive and take
much longer.

According to
www.parentsplace.com, there is a three percent chance of serious birth defects that will not be
detected by amniocentesis. In addition, they stress that "Amniocentesis
cannot guarantee the birth of a perfect baby."

In any lab test, there is a small chance
of a lab error. One mother in The Tentative Pregnancy was told that
lab errors occur about once in every thousand amnios. Of course, that's a
good rate-----unless YOU happen to be the one the error is made with.
Remember, on the basis of this lab report may hang a baby's life. Thus,
lab errors, while rare, can be devastating.

Another possible source of error is if the lab cultures the mother's cells by mistake
instead of the baby's. This would require a repeat amnio to be
performed a few weeks later, which of course causes a lot of problems if the
parents would consider abortion in case of a birth defect.

Occasionally the 'cultured' or
'grown' cells develop subtle changes from the original cells. This makes the
chromosomes have a slightly different configuration and appearance, artificially
creating different cells called 'pseudo-mosaics'. It is impossible to interpret
these cells, making the results of the amniocentesis inconclusive and the
amniocentesis would need to be repeated or a cordocentesis may be considered.

Amniocentesis for other purposes can be subject to errors as
well. As noted, amniotic fluid taken during a midtrimester amnio is tested
for AFP levels in order to check for Neural Tube Defects. However, fetal blood in amniotic fluid can falsely increase AFP
levels, making it look like a Neural Tube Defect is more likely. If an
amnio is being done to check on fetal lung maturity, blood or meconium in the
fluid can produce a false L/S ratio.

So while amniocentesis is
usually accurate, occasionally some factors can influence the test and cause
errors in lab results.

There are also some results which are inherently ambiguous,
because we don't really know the effect of the chromosomal abnormality detected.
Trisomy 21, or Down syndrome, is a well-defined syndrome (although, even there,
amniocentesis will not tell how severe a case of Down syndrome the baby will
have), but the results of sex chromosome trisomies are less well known. Is XYY
associated with more violent behavior or isn't it? Some reports say yes, others
no. The effects of XXX are also unknown.

Barbara Katz Rothman also discusses the problem of ambiguous
diagnoses in her book, The Tentative Pregnancy. She notes that
sometimes it's hard for lab techs to interpret chromosomal patterns, and
sometimes results are not clear. She states, "Laboratory errors do
occur, and not all chromosomal patterns look like they have come out of the
textbook. The results cause stress, and may raise more anxiety than can be
alleviated with further testing."

Katz Rothman tells the story of one woman who was told that
the baby had a "twist" on one chromosome. A "twist" is
a translocation, or as Katz Rothman explains it, "The chromosomes are
all there and accounted for, but things may not be in the right
order." The lab asked the parents to have their chromosomes
tested, and the mother was found to have this same "twist," and since
the mother seemed healthy, the baby was assumed to be healthy as well. However,
doubts had been planted in the mother's mind, and she remained uneasy and full
of fear.

Another woman in the book was tested for age-related Down
Syndrome risk. She was told that the baby has an extra chromosome 8, but
that that was so rare the results were more likely to be a lab error. They
did a repeat test, which found no trisomy on chromosome 8, but they couldn't
promise her that the baby did not have mosaicism----where some cells in the
child have trisomies and some do not. So again the seed of doubt and worry
was planted, and the mother found it impossible to be at peace about her baby's
health, even well after it was born, seemingly healthy. She wrote, "It's
really hard. I wish I never had an amniocentesis in the first place."

In a newspaper article in 2002, one father spoke of his
experience with ambiguous diagnosis. His wife had an ultrasound and amniocentesis at 17 weeks. The
ultrasound showed the baby not growing as fast as expected, with less fluid and
a larger placenta than expected. The parents had many repeated ultrasounds over
the next five weeks, some of which had differing results, both better and worse.
The parents agonized over their decision for weeks. No one could give them
any firm answers.

In the end, after being told that the chances were probably very high
that the baby would be born dead or in a vegetative state and that carrying to
term might endanger the mother, the parents opted for abortion, but it broke
their hearts. The father wrote, "This is the double-edged scalpel of
reproductive science. The technology that informs you your future baby is
mysteriously endangered also makes him real, a boylike creature swimming in
utero."

Although most of the time, amnio results are fairly clear,
sometimes there are ambiguous results, and the parents end up living in an
inferno of indecision and unknowns. Not knowing what to do while the pregnancy
clock is ticking can be hell.

Amniocentesis is not perfect. It
cannot detect all forms of birth defects or diseases. Just because your amnio
comes back as "normal" doesn't mean you are guaranteed a
"normal" baby. As noted above, there is still a fair chance that
a baby can have other birth defects or a genetic disease.

Still, if you are greatly concerned about a chromosomal
defect, certain genetic disorders, or Neural Tube Defects, an amnio is a pretty
accurate way to determine the baby's status on these issues.
Unfortunately, it is not a risk-free way of doing that, and occasionally errors
and ambiguous results do occur.

Although parents and doctors like to think of prenatal testing
as clear-cut and virtually infallible, it is not. But it can be useful to
some people, in some situations, to test for some conditions, with the
understanding that the test is not perfect and can sometimes cause more worry
than it relieves.

"The technology of prenatal
diagnosis is usually presented to us as a solution, but it brings with it
problems of its own...the technology of prenatal diagnosis has changed and
continues to change women's experience of pregnancy."

---Barbara
Katz Rothman,The Tentative Pregnancy

One of the most difficult things about amniocentesis is
choosing whether or not to have one. It is one thing to consider this
testing theoretically; it is another thing to consider doing it when you are
pregnant and can already feel the baby moving. Weighing the benefits and risks of
amniocentesis is very complex and does not lend itself well to simplistic answers.

One excellent book that does a very good job of presenting the
complexity of the prenatal testing issue (as well as the pros and cons of various
prenatal testing technologies) is The Tentative Pregnancy by Barbara Katz
Rothman. One of her most important points is that parents need to think
thoroughly about all of the implications of prenatal testing before they make
decisions about it, and consider the subtle ways in which prenatal testing can
affect the way they think about the pregnancy and the baby.

Most people sign the form agreeing to an AFP test, an
ultrasound, or an amniocentesis without really thinking these issues
through. Because most of the time the answers that come back are reassuring, most parents are spared from
having to really consider the tough choices. But inherent in prenatal
diagnosis are the most difficult issues of all, those of abortion, eugenics,
attachment, and unconditional vs. conditional love.

There is no one wrong or right answer about
amniocentesis. Answers will differ between couples, and different medical
circumstances will change the risk/benefit ratio associated with amnios. Each
couple must make this decision for themselves, but it is important to FULLY
consider all the implications of the test before choosing.

Inherent in any testing for birth defects is the subject of
abortion, whatever you think of that difficult topic. The stark reality is that most of the time
when an abnormality is found, the baby is
aborted. Many people choose prenatal testing with the idea of
abortion in the back of their heads, although sometimes only for certain conditions. Even those who go into the testing feeling like they would not
choose abortion often do end up choosing abortion anyhow if a problem is
diagnosed.

Although the ultimate
choice is of course up to the individuals involved, there is a great deal of strong
pressure for women with "abnormal" fetuses to have an abortion.
Doctors usually assume that of course a woman who has a fetus with a birth defect
is going to terminate the pregnancy. Although officially they state that
these tests are for information only, unofficially women report subtle but very
significant pressure to abort a pregnancy with abnormalities.

However, some couples choose amniocentesis even after
firmly deciding that they would never choose abortion, no matter what the
results are. In these couples, the desire to know of problems ahead of time
so they can be more prepared outweighs any potential risk for
miscarriage with the procedure. Other couples get a non-reassuring
test result from an AFP test or ultrasound, and even though they would not
choose abortion, choose to have an amnio because they cannot stand the suspense
of not knowing. They feel they have to know if the baby has problems, once
the question has been raised in their minds.

That abortion stands hand in hand with prenatal testing
creates enormous conflicts for parents. Most begin the prenatal testing
process with seemingly benign tests like ultrasounds and the AFP/Triple Test,
usually without fully understanding that
the logical end of such testing may well be a decision about
abortion. Those who enter the testing process naively often end up
disillusioned and traumatized by the difficult nature of such decisions, forced
upon them in a very short period of time.

It is very important that couples consider the FULL scope of
possible decisions before entering into prenatal testing, and that includes
their feelings about abortions and disabilities.

Another major problem with amniocentesis is evaluating your
own feelings about various disabilities, making judgments about when life is not
worth living, and deciding how much perfection is required to love and keep a
child. Katz Rothman describes this:

When people seek prenatal diagnosis, they are entering
into a process of evaluating disabilities, deciding which disabilities make
life not worth living for the disabled person, and also which disabilities
demand too much or are beyond their competence as parents. Individual
women entering the process may or may not fully anticipate how difficult these
decisions will be. Most are not informed enough to anticipate the range
of possible diagnoses, or the ambiguity inherent in the diagnostic
process.

Many doctors view prenatal diagnosis backed up by abortion for
disabilities as appropriate usage of
resources, since the parents, the state, and medical insurances no longer then have to care
for this child and its lifelong medical bills. Disabled people would
not agree. Most are incensed at the thought that others would judge their
lives as 'not worth living' because of their disability.

Families of those with disabilities are often caught in the
middle. Most love their disabled children fiercely and are outraged at the
suggestion of abortion for disabilities. However, the unpleasant truth is
also that some disabilities are severe and overwhelming, that taking care of a
severely disabled child is a life-long task, and that the financial and
emotional burdens can be overwhelming.

Some parents of disabled children choose amniocentesis with
their next pregnancy because they cannot countenance the possibility of taking
care of another disabled child. Others choose amniocentesis because they want to
know ahead of time so they can prepare, but would never consider aborting, no
matter what. Others choose no prenatal testing because they feel a child---any
child---is a gift, and they choose to omit prenatal testing so that they can appreciate the
child for what it is instead of worrying about what it isn't during the
pregnancy. There are no easy answers on these choices.

Remember also that amniocentesis cannot determine the severity
of a disability, merely the presence of it. Some children with Down
Syndrome are severely retarded, some only minimally. Some have severe
health problems, others lead fairly normal lives. Some end up
institutionalized, and some learn to read and write and hold a job. An
amniocentesis diagnosis of Down Syndrome will not be able to tell you where your
child will fall within this range of variation.

Some children are born with devastating birth defects or
diseases that guarantee a short life full of suffering. Because these
children often suffer great pain and agony before they die, is it more merciful
to end their lives sooner rather than later? Or is that playing God? These are among the most
difficult of choices that parents can face.

Sometimes, ambiguity in diagnosis causes difficult
dilemmas. There are certain chromosomal differences where no one is sure
how meaningful the diagnosis is. For example, extra or missing sex
chromosomes (the "x" and "y" chromosome) are common, but
their meaning is unclear at this point. Some people have an extra
"twist" or translocation of their chromosomes; no one really
understands yet whether this really affects them or not. Because children
with some "minor" chromosomal problems may or may not develop problems
later on, is this worrisome enough to have an abortion?

Deciding where to draw the line about disabilities and birth
defects encroaches on the difficult territory of Eugenics. As Katz Rothman
puts it:

The history of prenatal diagnosis has roots in the
eugenics movement, in various attempts to "improve the race."
It is certainly one of the less flattering lights in which to view prenatal
diagnosis, but part of its history has been an attempt to control the gates of
life: to decide who is, and who is not, fit to make a contribution to the
"gene pool."

Central to the whole issue of Eugenics are many thorny ideas,
including:

When (if ever) is a life too burdensome to those around
them?

When (if ever) is a life too burdensome to the State and
businesses that must provide for it?

When (if ever) is a medical condition too burdensome to
those living with the medical condition?

How do we weigh the competing interests of the individual,
the family, and the State?

What makes life worth living?

Should decisions like these even be within
the choice of humans?

Who decides when suffering is too much and when it is not?

Who decides what life is worth living and what life is not?
Does anyone really have the right to decide that for anyone else?

Another problem with prenatal testing is that it puts women in
limbo when it comes to announcing their pregnancies and bonding with their
babies. For good or ill, it changes the way they experience
pregnancy.

Barbara
Katz Rothman discusses this issue at length in The
Tentative Pregnancy. She states:

Seeking and waiting for information changes the
pre-information stage of pregnancy, creates what I think of as a
"tentative pregnancy." It incorporates the issue of abortion
right into the route of motherhood and institutionalizes conditionality in
mother love....

The new technology of reproduction puts many women into a
difficult social state...A woman's commitment to her pregnancy under the
conditions imposed by amniocentesis can only be tentative. She cannot
ignore it, but neither can she wholeheartedly embrace it....

Most women manage to keep the anxiety under control, but
there is a cost to that. The cost is in the developing relationship with
the fetus. Distance must be maintained....

[Prenatal testing] changes the meaning of pregnancy, and
of the mother-fetus relationship, for the mother. A diagnostic
technology that pronounces judgments halfway through the pregnancy makes
extraordinary demands on women to separate themselves from the fetus
within...Only after an acceptable judgment has been declared, only after the
fetus is deemed worthy of keeping, is attachment to begin.

What does it do to motherhood, to women, and to men as
fathers, too, when we make parental acceptance conditional, pending further
testing?

For some women who choose prenatal testing, early pregnancy becomes a time of suspended
animation whose effects showed in subtle but telling ways. Katz Rothman
found that this group reported feeling fetal movement later than women who do not
choose amniocentesis, and many of them did not wear
maternity clothing until after the results of the amnio were back. This
speaks of a delayed bonding and postponed attachment. What does that do to
the fetus within, and what does that do to the mother who must, on some level,
deny her connection to the child within?

Women are being asked to take care of themselves and their
pregnancies, while knowing full well that at some point, they may choose to end
that pregnancy. This kind of "conditional" love takes a
difficult toll, and one not easily resolved.

Some parents prefer to know about any problems ahead of time
so that they could grieve these problems sooner rather than later and be more
prepared for the baby's situation at birth. On the other hand, some
parents do not feel that knowing ahead of time was a gift at all. Katz Rothman talked to many parents who felt like their
experiences of pregnancy and birth were tainted by foreknowledge of the baby's
problems, and that knowing of even very minor problems took much of the joy and
anticipation out of their pregnancies.

For example, one case presented in The Tentative Pregnancy
tells of a woman who was told that her female fetus was
missing one X chromosome on some of her cells but not on others, and that as a
result she might have Turner's Syndrome, either in the full-blown or mosaic
form. The parents were unable to find much information on Turner's
Syndrome at the time, nor what it would mean to have only some cells missing the
second X chromosome (mosaicism). While they were trying to figure out what
the diagnosis meant, the mother reported that she felt distant and alienated
from her baby. She recalled:

Initially I felt this alienation---from the pregnancy,
from...the fetus. I didn't want to put my hands down on my stomach.

Oftentimes, this alienation takes much of the joy of pregnancy
away, and the parents spend the whole time in a state of great anxiety.
This state often extends beyond the prenatal period too, with parents reporting
feeling more alienated from the child after birth.

When the focus is only on the child's potential problem, there
is no time to enjoy the pregnancy, nor to enjoy the child simply as a
child. Prenatal testing can take that simple enjoyment of the child for
its own sake away, and that can be a very profound loss for parents.

Thus, while amniocentesis can be a very useful test, it can also be
a double-edged sword. Katz Rothman writes:

While we must acknowledge the relief and reassurance that
amniocentesis provides, it is important to place that in the context of the
anxiety it generates.

For some women, prenatal testing means waiting to bond with
their child until after they find out the fetus is free of the most common birth
defects. It means living in a state of limbo, emotionally neither totally
pregnant nor not pregnant. Even those who would not abort say
their experience of pregnancy was not the same while they were awaiting the
results of prenatal testing, or if they found out that something
"might" be wrong.

Most of the time, knowing about a birth defect ahead of
time does not result in prenatal cures or make any difference in birth choices. Does the foreknowledge of
problems really
help? What do you do once you know there's a problem? How do you
make those kinds of terrible choices? Even if you do nothing, what kind of
emotional price do couples pay in worry, and in having much of the joy of the
rest of their pregnancy taken from them? This is the double-edged sword of
prenatal testing.

Choosing whether or not to have an amniocentesis is obviously
a highly personal decision. Some people decide against having an
amniocentesis (or any prenatal testing) no matter what, while some choose
amniocentesis even when they are considered "low risk" for birth
defects. Many women choose
limited prenatal testing and have an amnio only if other tests indicate a
potential concern.

Some choose amniocentesis only if they are over 35, while
others choose elective amniocentesis even well before 35. Some couples
choose amniocentesis with the intention of aborting if there are any
"abnormal" results, while others would choose abortion only for
certain birth defects or diseases but not others.

Still other people choose amniocentesis even when they know
they would never choose abortion. In these cases, parents might wish to
know of any serious problems ahead of time, especially in the unusual cases when
in-utero treatment might be available, or where changes in birth decisions might
be helpful.

Amniocentesis is an extremely personal decision, and it is not
the intention of this FAQ to promote one decision over any other, only to raise
questions and fully explore all the implications of amniocentesis.

When considering the amniocentesis question, take some time to
review your own personal values, consider possible reasons for and against
amniocentesis, answer some provocative questions about amniocentesis, and
explore various scenarios you might encounter BEFORE you make your decision for
or against.

Obviously, personal values deeply affect a person's decisions
about amniocentesis. A person who believes that abortion is wrong under
any circumstance is going to be much less likely to do an amnio, although
sometimes there may be reasons to do one even if you would not abort.
Conversely, couples who are genetically at risk for a child with severely
debilitating diseases may feel that the burden of long-term care blurs the
ethical questions of amniocentesis and are generally highly likely to choose
one.

There are other ways in
which personal values can influence the decision to have an amnio as well.
As Dr. Marjorie Greenfield states at www.drspock.com,

At 35 years old, women have a risk of about 1 in 200 of
giving birth to a baby with Down Syndrome. In the United States, the
standard is to offer amniocentesis to all women who have more than a 1 in 200
chance of identifying a genetic problem in the fetus, that is, when the risk
of Down Syndrome equals the risk of causing a miscarriage with the
amniocentesis.

Of course, this represents a value judgment that does not
hold for all families. For some, any risk of Down Syndrome feels
unacceptable, and they choose to have amniocentesis even though the risk of
the test causing a miscarriage is higher than the risk of Down Syndrome that
the test might detect.

For others, the risk of causing the loss of an
otherwise healthy pregnancy feels unacceptable, and they choose to decline
amniocentesis, even if they are at high risk of finding a problem. This
is often the case with older moms who have gone through infertility treatment,
who feel they cannot risk losing the pregnancy under any circumstances.

Most of the time when there is a problem diagnosed prenatally,
there is nothing that can be done differently to improve a baby's
prognosis. You find out there's a problem but that there's little that can
be done. What then? This is one of the difficult dilemmas presented
by prenatal diagnoses, and this is where clarifying your own personal values
ahead of time can be helpful:

What would you do if a problem were
diagnosed?

Are there ever any circumstances under which you would consider
abortion?

How would you handle a child with a disability?

Does it
matter to you which disabilities are diagnosed?

What makes a person's life
worth living?

Who should be making decisions like these?

These are the personal values that will influence choices
about amniocentesis. Sit down with your partner and think about the possible
scenarios you might face and your opinions on the questions above.

One of the dangers of prenatal testing is that parents begin
looking for a guarantee that their child will be perfect. Some parents see
prenatal testing as a way to help take some of the uncertainty out of
life. But that is an illusion in many ways, as Katz Rothman brutally
points out:

An irony in all this is that the technology still cannot
guarantee a "blue ribbon baby." A fetus can pass all of the
tests and still be far from perfect at birth. A child can be born or
become retarded, disabled, disfigured from thousands of causes...There are
limits to control, and our children are always "hostages to
fortune"...The possibility of spending the rest of one's life caring for
a sick or disabled child can never be eliminated by prenatal
testing...Motherhood is, among other things, one more chance for a speeding
truck to ruin your life.

Prenatal testing can take some of the uncertainty out
of your life, but at what price? And are you comfortable with that
price? That is the question you have to ask yourself.

Due to the increased risk of miscarriage, amnios for detection of birth defects are not recommended for the general
population until the mom is at least age 35, because at that point, the
theoretical risk for miscarriage approximately equals the increased risk for
having a baby with Down Syndrome.

However, if there are
special circumstances like a family history of birth defects or an abnormal
prenatal screening test, there will be significant pressure to do an amnio in a
mother who is not yet 35. And of course, at any age, if you would like
to have an amnio, you can request one, and that request is usually honored.

While the risk of birth defects does increase
with age, these risks can be overemphasized. The odds of having a
healthy baby are still in your favor even well into your
40s. The risk of a baby with Down Syndrome is generally cited to be about 1
in 100 or so at age 40. If someone told you that you had a 99/100
chance of winning the lottery would you feel confident about your chances?
It's the same for having a "normal" baby. Your odds are still
99/100 that the baby will be "normal" when you are 40. Although the odds do
change over time, even well into your 40s the odds are still in your favor that
you will not have a baby with Down Syndrome.

Do not assume that you must have
an amnio if you are over 35 or for any other reason. Doctors often automatically
assume you will have an amnio if you are 35 or over; many hand you the paperwork
without question at the first prenatal appointment. However, any and all
tests are always OPTIONAL; you do have the right to
refuse them if you wish, no matter what your age.

If you feel unduly pressured towards an amnio because of your
age, this is often a sign that you need to switch providers because they
already perceive you as "high risk" due to your age, and they already
obviously tends towards considerable intervention. If the doctor's emphasis on
your age or pressure for prenatal testing makes you uncomfortable, this is a
strong indication that this is not the right provider for you.

Amnios are
an effective tool under certain conditions but should not be used routinely
because of age or any other condition (including size). No doctor should pressure a woman into an amnio simply because of her
age or other factors. They can suggest the advisability of an amnio, but the
choice is ultimately up to the parents involved, not the doctor, and if
the doctor can't live with that, he is not the doctor for you.

Personal beliefs should play the biggest role in your
decision about amniocentesis, much more than any supposed "risk
factor" like age. Be sure to discuss thoroughly all aspects of
the decision and the procedure with your health care provider. It
is not a decision to make lightly or routinely, and certainly not just because of age or
any other
risk factors.

Sometimes parents encounter a great deal of pressure about
amniocentesis and other prenatal testing decisions. Sometimes this pressure
comes from friends and family, but more often it comes from medical
personnel. At other times, parents feel pressure not to have prenatal
testing, even when they feel strongly they want to have it.

If you have
weighed all the potential benefits and risks and feel that amniocentesis is the
right decision for you, proceed with the decision. No one else has the
right to dictate your choices to you. Rest assured that it is usually
fairly easy to find a doctor to support you in these choices (or you can switch
in order to find one who is supportive).

However, it is more common for parents to be pressured into
having an amnio, usually by medical personnel. Many feel that
amniocentesis should be required (or at least strongly promoted) among
women deemed to be more "at risk" for certain conditions, even when
that overall risk is still quite low. Women who are older than 35, women
who are plus-sized, women who have certain medical conditions (diabetes etc.)
often face tremendous pressure to have an amniocentesis.

Many women who are "more at risk" do decline
extra testing, and there are good arguments for doing so. Being at a
slightly higher risk for a condition does not mean the condition will occur, nor
does it make prenatal testing mandatory or
even a good idea for everybody in that group. Testing should be offered,
not required, and providers need to offer those choices without pressure or
judgment.

Sometimes, providers apply a great deal of pressure to have
extra testing or don't want to respect your reservations about testing
decisions. Some will even classify you as "high risk" if you decline
testing! If at any time you feel your provider is greatly
pressuring you towards an amnio or other prenatal testing you don't want, SWITCH
PROVIDERS!!

If your provider treats you as high risk and greatly
pressures you for or against any particular test, you should ask yourself
whether that person is the right provider for you. Many women choose to
switch providers when they encounter one who does not respect their right to
make their own prenatal testing decisions. Often, this is the sign of a
highly interventive provider, and one you are probably better off
without.

As for friends and family, remember that you do not have to
keep other people informed about your prenatal testing decisions in any
way. It is your own business, and if anyone questions you about it,
politely but firmly tell them that you are considering your choices but that
your decision will remain private.

One common argument against amniocentesis is that if you would
not consider abortion based on its findings, why do the test and expose the
child to the risk of miscarriage? This is a valid argument, and one reason
many couples do not choose amniocentesis.

However, some couples still choose amniocentesis even when they would not
choose to terminate a pregnancy. In this situation,
these couples feel that they would prefer to know about any problems ahead of
time, so they could adjust before the baby was born.

These couples often feel it is best to know about problems ahead of time so
they can discuss the problem
with genetic counselors and health care providers. They may feel that
knowing ahead of time would give them time and space to become more informed
about the baby's problem, to grieve the loss of a "normal" child, and
to be more ready to welcome that unique baby into the world at his birth.
According to Katz Rothman, some research supports the
idea that knowing ahead of time can help parents adjust better and be more
prepared; some does not.

Another argument for choosing amniocentesis even when abortion
would not be chosen is that in rare cases, knowing ahead of time of a certain
fetal condition can improve outcome. In some cases, different birth choices may be more optimal if a
birth defect is known about ahead of time. For example, it
is thought that some cases of spina bifida may be more safely delivered by
cesarean. Or doctors may know to watch for certain complications during
labor and birth if they know about certain birth defects ahead of time.

Other problems may not be readily treatable but
doctors will know ahead of time to watch for problems, beginning right at
birth. Sometimes it's helpful to know of potential problems so the couple will know to deliver in a hospital that has a Level III Neonatal
Intensive Care Unit.

There are also a few conditions for which there are
treatments in utero. For example, the March of Dimes notes that two
life-threatening inherited disorders of body chemistry, biotin dependence and
MMA (methylmalonic acidemia), can be detected by amniocentesis and successfully
treated in the womb.

On the other hand, a problem diagnosed prenatally may sometimes worsen
outcome instead of improving it. The provider's perception of the
pregnancy and the baby changes, and some research (see www.aims.org.uk/ultrasound.htm)
shows that babies diagnosed with problems prenatally by ultrasound were delivered earlier and by more
cesareans than babies with the same condition not diagnosed prenatally.
This did not improve outcome, and may have worsened it. So prenatal
diagnosis may be a mixed blessing in some cases.

Also, not every couple feels that knowing ahead of time about a
problem is worthwhile. Some couples found that it changed the experience
of pregnancy for them, usually negatively, as noted above. One mother interviewed by Katz Rothman chose not to have
amniocentesis because she felt knowing would limit her perceptions of her child,
that the child would only "become" his or her disease to her. She said:

Knowing...adds stress to the remaining gestation and does
not give the parents the opportunity to see the whole child, the child
who is more like other persons than unlike them. The parent can only
focus on what's wrong, not what's right about a child.

So knowing about a problem ahead of time, even if you would
not abort, is not always a blessing either. However, in rare cases, it may
improve outcome to know ahead of time. Parents who would not abort but who are
still considering amniocentesis need to balance the small chance that knowing
might improve outcome with the chance that an amnio might cause a
miscarriage. They need to also consider what emotional toll knowing about
a birth defect might have on their pregnancy and their bond with their baby.

Katz Rothman has several suggestions for parents who have
decided to go ahead and have amniocentesis and other prenatal
testing. These are only her suggestions; not everyone will agree. If
you disagree with some of them, please feel free to choose a different course
than she suggests.

Katz Rothman suggests that parents go ahead and announce the pregnancy,
not keep it secret until they have the results of the amnio. She believes
it is more important that you go ahead and bond with the baby than hold off
bonding until halfway through the pregnancy when you know that all is "well." Even if you miscarry after an amnio or choose an abortion, you will
still have to mourn the child you have lost. She feels that to do that
privately, without any acknowledgement of your pain and loss from those around
you, is more difficult.

She suggests that parents expect good news from the testing,
since even the most high-risk parents have very good odds for receiving
"good news." She suggests going ahead with your plans as if
the baby is fine and everything is "normal." Don't delay bonding with
your child; chances are that everything is fine. Don't suspend your life,
waiting for news about the baby. Have the test if you want it but go live
your life normally in the meantime.

She suggests that women not ask for what they don't want
to know. If there is a specific type of birth defect that you don't want
to know about, don't ask. If you only want chromosomal analysis, don't ask
for genetic analysis. If you only want to look for certain diseases or
problems, only ask for those results, not the full spectrum of problems that can
occur. If you don't want to know if the baby has mosaicism (some abnormal
cells, while others are normal), tell them that. If you want to have the
full spectrum of tests across the board to look for any possible problem,
accept that this increases the risk for ambiguous results. Be specific about
what you want in your own mind, and to the medical personnel involved.

If there is a "bad outcome"----if
you get news of a birth defect, if you lose the pregnancy to miscarriage after
an amnio, etc.---she suggests that you need to go out and find support. This support may not
be from friends and family, but from whomever can listen to you and be
non-judgmental and loving about your feelings. She suggests finding other
people who have been in the same position and truly understand this "new
kind of grief."

Be careful who you tell that you are having an amniocentesis,
both family and friends. People often have very strong opinions about
prenatal testing, birth defects, abortion, and eugenics issues. If you
share your plans, you may end up backed into a corner, harassed, or having your
decisions questioned. Announce the pregnancy but keep your decisions about
prenatal testing to yourself and the few people you know who can listen and
support you non-judgmentally.

There is no easy or automatic answer when making decisions
about amniocentesis and other prenatal tests. When deciding
whether to have a test detect fetal abnormalities, think over all
these issues beforehand.

What are your
beliefs about abortion? Are there any circumstances under which you would
be comfortable choosing it?

How do you feel about birth defects and disabilities?
Are there some you could not live with?

Would you be able to choose abortion for certain birth
defects? Even after you have felt the baby moving?

How do you feel about the possible increased risk of
miscarriage from amniocentesis in exchange for more knowledge about the
baby's health status? Would you be able to live with it if you did
miscarry after an amnio?

If you would not choose abortion, would it be a blessing to know of any problems
with the baby ahead of time?

What would you do with the knowledge of a problem?
How would it change your pregnancy and birthing decisions?

How would you handle
news of a problem emotionally? Would you be better off knowing about
problems ahead of time?

Do you think it would change your experience of
pregnancy and your bonding with the baby to know about any problems ahead of time?

A large part of the decision-making process about
amniocentesis depends on your views of abortion, your views on disabilities and
caring for a child with a birth defect, and your comfort level with the increased risk
of miscarriage with the test. The decision is yours, and the fact that the decision IS yours
brings with it new dilemmas and new levels of pain, whatever you choose.

One of the biggest problems with prenatal testing is that
doctors can diagnose more birth defects than they are actually able to
treat. This leaves parents with a terrible dilemma of what to do with the
knowledge of a birth defect, and the unpleasant fact that prenatal diagnosis
often changes the experience of pregnancy and takes much of the joy and
anticipation out of it. More information, gotten earlier, is not always
an advantage.

Should an amniocentesis discover an abnormality or potential
abnormality, decision-making becomes even more painful. This is an extremely difficult choice, and
far beyond
the scope of this FAQ to discuss thoroughly. Kmom recommends the booklet,
"Precious Lives, Painful Choices" for anyone facing a decision like
this (see reference list).

It is in the potential detection of fetal abnormalities that
prenatal testing presents the most difficult dilemmas. No
one answer is "right" for every person or situation, and the choices
are some of the hardest a person can ever face.

That's why it is very
important for couples to discuss the implications of prenatal testing before
the process begins, and to fully understand the implications of their
choices.

An excellent overview of the debate over prenatal testing
of all kinds, but especially amnios. Represents multiple points of view
fairly. Author interviewed a number of genetic counselors, doctors and
other health professionals, as well as parents who had been through prenatal
testing. Shares the stories of families who chose testing, who received
reassuring and non-reassuring results, and the choices that they made.
Not an easy book to read but certainly one that anyone dealing with prenatal
testing should read.

www.ndsccenter.org/popular_print.asp
- Choosing Naia: A Family's Journey by Mitchell Zuckoff (a book by
parents who discovered their unborn child had Down Syndrome and their
struggle to choose what to do. Discusses the difficult issues brought
by prenatal testing)

www.prairienet.org/laleche/detinformed.html
- "The Issue of Informed Consent" - an essay by breastfeeding
expert Katherine Dettwyler, PhD, who has a son with Down Syndrome. She
discusses whether parents really understand what a diagnosis of "Down
Syndrome" means, and the misleading information often given by some
uneducated doctors about Down Syndrome. Neither pro-abortion or
anti-abortion, she simply urges parents to fully research what having Down
Syndrome means, and how much Down Syndrome children are capable of, instead
of falling back on the ill-informed myths perpetuated by some that these
children are "monsters" or "vegetables" or are always
severely retarded, will never walk and talk or read and write, etc.

Keller, Bill. "Alive in Their Hearts, He Haunts
Them Still." New York Times News Service, as seen in The
Oregonian, Sun., July 7, 2002 - Commentary article about the experience Keller and his
wife had with prenatal testing and abortion. Documents the difficulties,
pressures, and moral tangles that such testing brings about.

Randomized, controlled trial of 4606 women without known
risk of genetic disease (ages 25-34 years). Spontaneous miscarriage risk
was 1.7% in the amnio group and 0.7% in the control group (no amnio, only an
ultrasound). Risk factors for miscarriage included increased AFP levels
before amnio, perforation of the placenta during amnio, and withdrawal of
discolored amniotic fluid. There was more amniotic fluid leakage in the
amnio group afterwards but no more vaginal bleeding. Rate of postural
malformations was the same in the 2 groups. However, "Respiratory
distress syndrome was diagnosed more often (relative risk 2.1) and more babies
were treated for pneumonia (relative risk 2.5)."

Found that high levels on the AFP maternal serum test
were associated with an increased risk for miscarriage after
amniocentesis. A targeted ultrasound may be the better first choice to
check for NTDs after a high AFP test.

Study from Singapore designed to test whether an
experienced operator influenced the incidence of complications with
amniocentesis. Complications like fetal loss, blood-stained amniotic fluid,
culture failure, multiple needle puncture, leaking amniotic fluid, fetal
trauma, and error was less common in the group with more experienced
operators.

Studied 1296 cases where women has amniocentesis, and
3704 controls where amniocentesis was not used. Followed up cases and
controls for 7-18 years. The offspring of women who had had amnios were
NO more likely to experience hearing problems, learning difficulties, visual
problems, or limb anomalies than those who had not experienced
amniocentesis. The one exception was a higher rate of hemolytic disease
due to ABO isoimmunization.

Gillberg, C et al. Long-term follow-up of children
born after amniocentesis. Clin Genet. January 1982.
21(1):69-73.

122 children were followed, 62 of whom had been exposed
to amniocentesis in utero. They were examined between 5-7 years of
age. No differences were found between pediatric or neurodevelopmental
disorders, orthopedic abnormalities, or respiratory problems during the
neonatal period.

517 consecutive patients having an amnio in one center
were followed. 289 of these were compared with 289 matching controls
with no amnios. There was no significant difference in rates of fetal
loss, perinatal mortality or vaginal bleeding between groups. There was
however an increased risk for preterm delivery.

Reviews the medical literature on the rare complication
of amniotic fluid leakage and premature rupture of membranes. In 13
recent studies, found 280 cases of amniotic fluid leakage in 17, 186
amnios. Risk was increased with early amnio (<15 weeks) and when the
needle was inserted far from the placenta. Noted that bedrest "gave
good results." However, "Significant loss of amniotic fluid
compromises pregnancy...When amniotic leakage persists for more than two
weeks, there is little spontaneous resolution. The risk of pursuing the
pregnancy should be discussed with the couple in this case. Risks
include respiratory disorders, skeletal malformations and premature birth. New
techniques such as 'amniopatch' may play an important role in the near
future."

"A review of experimental amniocentesis in animals
suggests risks to limbs and structural changes in fetal lungs. In
humans, orthopaedic abnormalities and respiratory difficulties appear to be a
risk of amniocentesis, and studies addressing these risks are also
reviewed. Continued investigation of risks from fluid loss at
midtrimester amniocentesis is recommended."

91 infants whose mothers had had amnios were compared
with 53 infants whose mothers chose not to have amnios. "The
results indicated that amniocentesis does not appear to influence infant
mental and motor development, temperament, physical growth, or the risk of
orthopaedic abnormalities. However, amniocentesis is not entirely free
of risk because several of the infants had needle marks."

88 children whose mothers had had amnios were compared
with 46 children whose mothers did not have amnios. "The results
suggest a wide range of developmental and behavioral variables studied is not
influenced by removal of amniotic fluid in the mid-trimester. However, mothers
who had amniocentesis were more likely to report a history of ear infections
in their child...In support of this finding were the results of audiological
assessment which demonstrated a trend toward a higher rate of bilateral
middle-ear impedance abnormalities in children whose mothers had
amniocentesis...Further study of the upper respiratory system is recommended
to explore potential long-term sequelae of mid-trimester amniocentesis."

Same sample of children (86 exposed to amnios, and 44
controls this time) were examined at school age. No differences between groups
were found. "Second trimester amniocentesis does not appear to
compromise child development, behaviour, growth or health."

Greek study that found that several factors seemed to be
related to an increased rate of fetal loss following a second trimester
amnio. Women older than 40 years had about twice the fetal loss rate of
younger women. Women with a history of vaginal bleeding in the current
pregnancy had 2.4x the risk for fetal loss. Women with a prior history
of 3+ first-trimester abortions or a second trimester miscarriage or abortion
had an even higher risk for fetal loss (3.03x the risk).

Found that miscarriage rates after amniocentesis varied
significantly by week of gestation. Found higher rates of fetal loss in
amnios performed at or after 19 weeks of gestation. Also notes that
miscarriage can occur as long as 6 weeks after the amnio.

Suggests that women not be quoted one single rate of risk
for miscarriage, but rather a range of possible rates, based on weeks of
gestation when amniocentesis is performed and including cumulative rates that
include fetal loss that occurs even after several weeks have passed after the
amnio.

Swedish study that found that earlier amnios were
associated with a higher fetal loss rate. Amnios that were performed
between 13-20 weeks were studied; the fetal loss rate was highest at 13
weeks. One-third of losses occurred within 2 weeks of the amnio, and the
rest were within 7 weeks of the amnio, so obviously losses can and do occur
even once the immediate period after the amnio has passed. Abnormal
color of amniotic fluid and leakage of amniotic fluid were "strong
predictors of fetal loss." Tranplacental needle insertion, on the
other hand, did not increase the risk for loss.

Followed all pregnancies that underwent midtrimester
amniocentesis over a 10 year period in one Swedish medical center, and the
risk factors for pregnancy loss associated with amnios. 2083 pregnancies
were considered. "There was a slight but nonsignificant
relationship between the degree of experience of the gynecologist and risk for
pregnancy loss. A more experienced operator used significantly fewer
needle insertions...Multiple needle insertions were also associated with a
slight, albeit nonsignificant, increase in incidence in fetal loss (3.8% after
3 or more insertions vs. 1.2% after one insertion). No difference in
spontaneous abortion incidence was found in patients having an anterior versus
a posterior placenta, nor did transplacental needle passage increase the risk
for pregnancy loss."

Study on amnios from the 1980s that found the risk of
spontaneous abortion as a result of amniocentesis varied from 0.2% to
1.4%. Stained amniotic fluid was associated with a much
higher risk for fetal loss (29%). Unexplained elevations of AFP were
associated with a 38% risk for a low birth weight infant. "The only
neonatal complication associated with amniocentesis was an apparent marked
increase in the incidence of lower-extremity orthopedic
abnormalities."

Discusses the use of real-time ultrasonography in helping
during difficult amniocentesis cases. Case reports of 6 difficult amnios
in the presence of reduced amniotic fluid were discussed. 3 cases of
very low fluid (oligohydramnios) were discussed (all 3 later resulted in fetal
death). 3 cases where decreased (but not severely low) amniotic fluid
was accompanied by maternal obesity were also discussed (outcomes were fine
and reassured doctors there was a normal pregnancy). However, one has to
wonder about the wisdom of withdrawing amniotic fluid when low amniotic fluid
is already suspected, and whether that played a role in the 3 deaths from
oligohydramnios.

Singapore study of 59 children exposed to midtrimester
amniocentesis, and 63 control children. There was no significant
increase in NICU rates, impairment of speech, language development, or
auditory function in children exposed to amnios. However, incidentally,
the authors found an increased incidence of respiratory illness in the amnio
group (57.6%) compared with the control group (30.1%) and called for further
study of this finding.

39 healthy full-term babies who had been exposed to
mid-trimester amniocentesis had lung function tests, as well as 42
controls. "Babies subjected to amniocentesis had a significantly
lower dynamic compliance...and tended to have higher resistance compared to
controls...This provides further evidence that mid-trimester amniocentesis
does have an adverse effect on lung growth and development."

354 women who had midtrimester amniocentesis were matched
with controls who did not have amniocentesis, in order to compare the neonatal
respiratory status of their offspring. "There was no evidence that
the infants exposed to genetic amniocentesis were compromised."

Early Amniocentesis

CEMAT Group. Randomised trial to assess safety and
fetal outcome of early and midtrimester amniocentesis. The Canadian Early
and Mid-trimester Amniocentesis Trial (CEMAT) Group.
Lancet. Jan. 24, 1998. 351(9098):242-7.

*The* big study on early amniocentesis vs. second
trimester amniocentesis. Women were randomly allocated to early
amniocentesis (11-12 weeks) or midtrimester amniocentesis (15-16 weeks).
11 mL of amniotic fluid were removed in EA and 20 mL in MA. No more than
2 needle insertions were done on the same day. Maternal and fetal health
were assessed at 20-22 weeks and again 5 weeks after delivery.

There were more losses in the EA group (7.6% vs. 5.9%),
and significantly more clubfoot (1.3% vs. 0.1%). There was more
post-amnio fluid leakage in the EA group (3.5% vs. 1.7%). "Our
study shows that early amniocentesis is associated with an increased risk of
fetal loss and talipes equinovarus [clubfoot]."

Early Amnios were associated with higher rates of fetal
loss, clubfoot, failed procedures, multiple needle insertions, amniotic fluid
leakage, and failed cultures. "Performing amniocentesis before 13 weeks
gestation (EA) was the major predictive factor for adverse outcome.
These data suggest that first-trimester chorionic villus sampling (CVS) and MA
will likely remain the invasive procedures of choice for evaluation of fetal
karyotype." Also found a higher rate of problems in amnios at 14
weeks, even though that may not be technically considered Early Amniocentesis
by many resources.

Compared the incidence of respiratory problems and lung
volume abnormalities in babies who had had first-trimester amnios (n=74)
or chorionic villus sampling (n=86). Used measurements of
"functional residual capacity." CVS was associated with a higher
incidence of neonatal respiratory distress (7%) vs. early amniocentesis
(0%). However, both groups showed high rates of low functional residual
capacity. "Both amniocentesis and CVS performed in the first
trimester of pregnancy may impair antenatal lung growth."

Notes that second trimester amniocentesis has been
associated with "an excess of perinatal lung function
abnormalities." Examined first trimester amnios and first trimester
CVS. Found that "Procedures performed in the first trimester were
independently associated with a high airways resistance. These results
suggest that invasive procedures performed in the first trimester of pregnancy
have an adverse effect on perinatal lung function."

Assessed the impact of first trimester CVS and Early
Amniocentesis on respiratory morbidity in young children (1 year).
Functional Residual Capacity was also measured in 5 month old babies who were
exposed to CVS or EA prenatally (and also in controls). Found an excess
of respiratory symptoms and chest-related hospital admissions in the EA group
compared to the controls. Positive symptom status was related significantly to
EA and CVS interventions, bottle feeding, parental smoking, family history of
atopy (allergies), and immaturity. "We conclude that first
trimester procedures are associated with increased respiratory morbidity in
very young children."

Discusses the theory that removing less fluid (about half
of that removed during second trimester amnios) during early amniocentesis
might help improve prognosis. Suggests that fluid depletion from amnios
may persist for 7-10 days, a significant departure from what most amnio
literature says. By removing 7 ml they obtained a 3.8% miscarriage rate, a
2.7% respiratory difficulty rate at birth, and a 1.6% rate of "fixed
flexion deformities," all at the price of a small increase in the
incidence of culture failure (2.2%).

This study examined the rate of foot deformities after
amnios done at 12-14 weeks; other studies have examined the rate of foot
deformities in early amnios done before 13 completed gestational weeks.
Found a higher rate of foot deformities than they expected (odds ratio
1.74). The rate of spontaneous miscarriages after the amnio was 1.8% and
the rate of amniotic fluid leakage was 1.9%. "There was a
significant trend for all complications to decrease with increasing
gestational age at amniocentesis."

Early Amnios were associated with higher rates of fetal
loss, clubfoot, failed procedures, multiple needle insertions, amniotic fluid
leakage, and failed cultures. "Performing amniocentesis before 13 weeks
gestation (EA) was the major predictive factor for adverse outcome.
These data suggest that first-trimester chorionic villus sampling (CVS) and MA
will likely remain the invasive procedures of choice for evaluation of fetal
karyotype." Also found a higher rate of problems in amnios at 14
weeks, even though that may not be technically considered Early Amniocentesis
by many resources.

Regarding obesity and EA, "Maternal factors found to
be independently predictive of fetal loss included increased BMI...Increased
BMI was also a predictive factor for a 'difficult procedure', which in turn
was associated with an increased risk of fetal loss. This implies that
maternal obesity likely imposes technical challenges to the operator,
increasing the probability of a difficult procedure and of post-procedure
complications."

Because there was limited fetal losses in the later amnio
group (MA), any potential association between obesity and fetal loss in the
traditional form of amniocentesis was unable to be investigated.

Discusses the use of real-time ultrasonography in helping
during difficult amniocentesis cases. Case reports of 6 difficult amnios
in the presence of reduced amniotic fluid were discussed. 3 cases of
very low fluid (oligohydramnios) were discussed (all 3 later resulted in fetal
death). 3 cases where decreased (but not severely low) amniotic fluid
was accompanied by maternal obesity were also discussed (outcomes were fine
and reassured doctors there was a normal pregnancy). However, one has to
wonder about the wisdom of withdrawing amniotic fluid when low amniotic fluid
is already suspected, and whether that played a role in the 3 deaths from
oligohydramnios.

Early study of the problem of Rh sensitiation in Rh
negative women. 78 Rh negative women who had amnios without receiving
Rhogam were studied. 56 were at risk for sensitization. 3 (5.4%)
were sensitized, but this was not significantly higher than the 2.1% rate of
spontaneous Rh sensitization during pregnancy. However, a trend towards
increasing sensitization after amnio was noted. Authors recommend use of
Rhogam in Rh negative women undergoing amniocentesis.

"Multiple dimple-like scars occurred in an infant
whose mother had undergone midtrimester amniocentesis." The authors
then discuss the prevalence and diagnosis of this situation. Note that
this is a case study, and that this probably occurred at a time when
continuous ultrasound monitoring was likely not being done with
amnios.

Horrifying case report, not for the squeamish. This
was from the days when continuous ultrasound was not used and would be
unlikely to occur now, but is still a sobering reminder of the potential risks
of amnios. In a mid-trimester amnio, a string of fetal mucosa and
submucosa from the fetus' small intestine was found. The implication is
that this was diagnosed as a possible abdominal defect. The baby was
aborted 21 days later. "There was no lesion of the abdominal
wall" but they did find probable signs of fetal damage from the
amnio. In other words, the needle probably hit the baby and perforated
its abdomen, damaging it and putting intestinal mucosa into the amniotic fluid
that was withdrawn. The baby was aborted within 3 weeks, but no birth defect was
found, only probable damage from the amnio.

Case report of fetal exsanguination (the baby bled out
and died) after a midtrimester amniocentesis. Examined 242 consecutive
amnios and the results suggested that "fetal hemorrhage is relatively
common and difficult to avoid during this procedure." Suggests that
fetal hemorrhage may be more common when the placenta is anterior.

Examined 107 infants born after midtrimester
amniocentesis. "The frequency of fetal injury was 9%, and was
directly related to the number of attempts at amniocentesis. All were
minor cutaneous injuries except for 1 case of disruption of a patellar
tendon." Made suggestions for reducing the incidence of "fetal
puncture." [Note that this study was done before continuous
ultrasound was used during most amniocentesis procedures.]

4 cases of fetal puncture during second trimester
amniocentesis were reported in this study. In one cases, the baby
"apparently sustained temporary neurologic damage." The
authors reviewed their own data and the research literature and concluded that
fetal puncture occurs in 1-3% of midtrimester amniotic taps. "We
conclude that midtrimester amniocentesis should not be considered a routine
benign procedure; and whenever the use of this diagnostic modality is being
considered, the prospective parents should be informed of its
hazards." [Again, this study was done before continuous ultrasound
was used with amnios.]

Presents a case report of Amniotic Band Syndrome
associated with second-trimester amniocentesis. Amniotic Band
Syndrome occurs when the inner sac of waters is disrupted or ruptures and
"strings" of the sac go through the amniotic fluid. Sometimes
these "strings" go across parts of the baby and cause scars,
restricted growth of the part affected, or even amputation of fetal
limbs. In this case, the amniotic band restricted the umbilical cord and
the fetus eventually died. Although most cases of Amniotic Band Syndrome are
not associated with amniocentesis, a few cases may be, and the authors caution
that invasive prenatal testing like amniocentesis can induce rare
complications like Amniotic Band Syndrome.

Kohn, G. The amniotic band syndrome: a possible
complication of amniocentesis. Prenatal Diagnosis. May 1987.
7(4):303-5.

Another case report of fetal damage.
"Malformations of the upper distal extremeties were noted in an otherwise
healthy infant whose mother underwent diagnostic amniocentesis. A causal
relationship is postulated."

Discusses the amniotic band syndrome and 2 case reports
of this. One is thought to be associated with a prior amniocentesis.

The Debate Over The Best Invasive Prenatal Test

Jauniaux, E et al. What invasive procedure to use in
early pregnancy? Baillieres Best Pract Res Clin Obstet Gynaecol.
August 2000. 14(4):651-62.

Discusses the pros and cons of the various invasive
prenatal tests available. "Mid-trimester amniocentesis remains the
safest invasive procedure. Chorionic Villus Sampling (CVS) and early
amniocentesis (EA) are associated with a higher risk of subsequent pregnancy
loss. There is also a 10-fold increase in the risk of mosaicism with CVS
compared to amniocentesis. Both CVS and EA can induce fatal structural
defects and should be abandoned as routine invasive tests. Patient
counselling should include an evaluation of the risk associated with each
individual procedure but also the operator's personal complication rate."

Compared randomized trials of CVS to second trimester
amniocentesis. CVS was associated with more "sampling and technical
failures, and more false positive and false negative results." Pregnancy
loss was more common after CVS (odds ratio 1.33). There was also a
suggestion, not statistically significant, that there was an increase in
stillbirths and neonatal deaths after CVS. The authors concluded,
"The increase in miscarriages after chrion villus sampling compared to
amniocentesis appear to be procedure related. Second trimester
amniocentesis appears to be safer than chorion villus sampling. The
benefits of early diagnosis with chorion villus sampling must be set against
the greater risk of pregnancy loss."